id sid tid token lemma pos work_6fmxppcvcrd2xlbjmj2hlbluna 1 1 Clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 1 2 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 1 3 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 1 4 loss loss NN work_6fmxppcvcrd2xlbjmj2hlbluna 1 5 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 1 6 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 1 7 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 1 8 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 1 9 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 1 10 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 11 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 12 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 1 13 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 1 14 new new JJ work_6fmxppcvcrd2xlbjmj2hlbluna 1 15 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 1 16 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 1 17 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 1 18 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 19 nemaline nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 20 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 21 1Géraud 1Géraud NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 22 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 23 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 1 24 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 25   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 1 26 al al NNP work_6fmxppcvcrd2xlbjmj2hlbluna 1 27 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 2 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 2 2 Med Med NNP work_6fmxppcvcrd2xlbjmj2hlbluna 2 3 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 2 4 2020;0:1–7 2020;0:1–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 2 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 3 1 doi:10.1136 doi:10.1136 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 2 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 3 3 jmedgenet-2019 jmedgenet-2019 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 4 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 3 5 106714 106714 CD work_6fmxppcvcrd2xlbjmj2hlbluna 3 6 ORIGINAL original JJ work_6fmxppcvcrd2xlbjmj2hlbluna 3 7 RESEARCH research NN work_6fmxppcvcrd2xlbjmj2hlbluna 3 8 Clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 3 9 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 3 10 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 3 11 loss loss NN work_6fmxppcvcrd2xlbjmj2hlbluna 3 12 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 3 13 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 3 14 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 3 15 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 3 16 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 3 17 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 18 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 19 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 3 20 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 3 21 new new JJ work_6fmxppcvcrd2xlbjmj2hlbluna 3 22 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 3 23 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 3 24 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 3 25 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 26 nemaline nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 27   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 3 28 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 29 Justine Justine NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 30 Géraud,1 Géraud,1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 31 Klaus Klaus NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 32 Dieterich,2,3 Dieterich,2,3 NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 3 33 John John NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 34 Rendu Rendu NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 35 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 3 36 2,4 2,4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 3 37 Emmanuelle Emmanuelle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 38 Uro Uro NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 39 Coste,3 Coste,3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 40 Murielle Murielle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 41 Dobrzynski,5 Dobrzynski,5 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 42 Pascale Pascale NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 43 Marcorelle,6 Marcorelle,6 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 44 Christine Christine NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 45 Ioos,7 Ioos,7 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 46 Norma Norma NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 47 Beatriz Beatriz NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 48 Romero,8,9 Romero,8,9 : work_6fmxppcvcrd2xlbjmj2hlbluna 3 49 Eloise Eloise NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 50 Baudou,1 Baudou,1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 51 Julie Julie NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 52 Brocard,2,4 Brocard,2,4 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 53 Anne- Anne- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 54 Cécile Cécile NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 55 Coville Coville NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 56 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 3 57 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 3 58 Julien Julien NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 59 Fauré,2,4 Fauré,2,4 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 60 Michel Michel NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 61 Koenig,10 Koenig,10 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 62 Raul Raul NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 63 Juntas Juntas NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 64 Morales,10 Morales,10 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 65 Emmanuelle Emmanuelle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 66 Lacène,8,9 Lacène,8,9 . work_6fmxppcvcrd2xlbjmj2hlbluna 3 67 Angéline Angéline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 68 Madelaine,8,9 Madelaine,8,9 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 69 Isabelle Isabelle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 70 Marty,2,4 Marty,2,4 : work_6fmxppcvcrd2xlbjmj2hlbluna 3 71 Henri Henri NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 72 Pegeot,10 Pegeot,10 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 73 Corinne Corinne NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 74 Theze,10 Theze,10 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 75 Aurore Aurore NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 76 Siegfried,4 Siegfried,4 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 77 Mireille Mireille NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 78 Cossee Cossee NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 79 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 3 80 10 10 CD work_6fmxppcvcrd2xlbjmj2hlbluna 3 81 Claude Claude NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 82 Cances1 Cances1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 83 Diagnostics Diagnostics NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 3 84 To to TO work_6fmxppcvcrd2xlbjmj2hlbluna 3 85 cite cite VB work_6fmxppcvcrd2xlbjmj2hlbluna 3 86 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 3 87 Géraud Géraud NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 88 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 89 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 3 90 Dieterich Dieterich NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 91 K K NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 92 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 3 93 Rendu Rendu NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 94 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 95 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 3 96 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 97   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 3 98 al al NNP work_6fmxppcvcrd2xlbjmj2hlbluna 3 99 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 4 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 4 2 Med Med NNP work_6fmxppcvcrd2xlbjmj2hlbluna 4 3 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 4 4 Epub Epub NNP work_6fmxppcvcrd2xlbjmj2hlbluna 4 5 ahead ahead RB work_6fmxppcvcrd2xlbjmj2hlbluna 4 6 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 4 7 print print NN work_6fmxppcvcrd2xlbjmj2hlbluna 4 8 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 4 9 [ [ -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 4 10 please please UH work_6fmxppcvcrd2xlbjmj2hlbluna 4 11 include include VB work_6fmxppcvcrd2xlbjmj2hlbluna 4 12 Day Day NNP work_6fmxppcvcrd2xlbjmj2hlbluna 4 13 Month Month NNP work_6fmxppcvcrd2xlbjmj2hlbluna 4 14 Year Year NNP work_6fmxppcvcrd2xlbjmj2hlbluna 4 15 ] ] -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 4 16 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 5 1 doi:10.1136/ doi:10.1136/ JJ work_6fmxppcvcrd2xlbjmj2hlbluna 5 2 jmedgenet-2019 jmedgenet-2019 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 5 3 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 5 4 106714 106714 CD work_6fmxppcvcrd2xlbjmj2hlbluna 5 5 For for IN work_6fmxppcvcrd2xlbjmj2hlbluna 5 6 numbered numbered JJ work_6fmxppcvcrd2xlbjmj2hlbluna 5 7 affiliations affiliation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 5 8 see see VBP work_6fmxppcvcrd2xlbjmj2hlbluna 5 9 end end NN work_6fmxppcvcrd2xlbjmj2hlbluna 5 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 5 11 article article NN work_6fmxppcvcrd2xlbjmj2hlbluna 5 12 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 6 1 Correspondence correspondence NN work_6fmxppcvcrd2xlbjmj2hlbluna 6 2 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 6 3 Dr Dr NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 4 Claude Claude NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 5 Cances Cances NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 6 6 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 6 7 Neuropediatric Neuropediatric NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 8 Department Department NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 9 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 6 10 Toulouse Toulouse NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 11 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 12 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 6 14 Toulouse Toulouse NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 15 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 6 16 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 6 17 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 6 18 cances cance NNS work_6fmxppcvcrd2xlbjmj2hlbluna 6 19 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 7 1 c@ c@ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 7 2 chu- chu- VBP work_6fmxppcvcrd2xlbjmj2hlbluna 7 3 toulouse toulouse NN work_6fmxppcvcrd2xlbjmj2hlbluna 7 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 8 1 fr fr IN work_6fmxppcvcrd2xlbjmj2hlbluna 8 2 JG JG NNP work_6fmxppcvcrd2xlbjmj2hlbluna 8 3 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 8 4 KD KD NNP work_6fmxppcvcrd2xlbjmj2hlbluna 8 5 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 8 6 JR JR NNP work_6fmxppcvcrd2xlbjmj2hlbluna 8 7 contributed contribute VBD work_6fmxppcvcrd2xlbjmj2hlbluna 8 8 equally equally RB work_6fmxppcvcrd2xlbjmj2hlbluna 8 9 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 9 1 MC MC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 9 2 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 9 3 CC CC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 9 4 contributed contribute VBD work_6fmxppcvcrd2xlbjmj2hlbluna 9 5 equally equally RB work_6fmxppcvcrd2xlbjmj2hlbluna 9 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 10 1 Received receive VBN work_6fmxppcvcrd2xlbjmj2hlbluna 10 2 15 15 CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 3 November November NNP work_6fmxppcvcrd2xlbjmj2hlbluna 10 4 2019 2019 CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 5 Revised revise VBD work_6fmxppcvcrd2xlbjmj2hlbluna 10 6 12 12 CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 7 June June NNP work_6fmxppcvcrd2xlbjmj2hlbluna 10 8 2020 2020 CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 9 Accepted Accepted NNP work_6fmxppcvcrd2xlbjmj2hlbluna 10 10 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 11 July July NNP work_6fmxppcvcrd2xlbjmj2hlbluna 10 12 2020 2020 CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 13 © © CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 14 Author(s author(s CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 15 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 10 16 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 10 17 or or CC work_6fmxppcvcrd2xlbjmj2hlbluna 10 18 their -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 10 19 employer(s employer(s NN work_6fmxppcvcrd2xlbjmj2hlbluna 10 20 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 10 21 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 10 22 2020 2020 CD work_6fmxppcvcrd2xlbjmj2hlbluna 10 23 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 11 1 Re- Re- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 11 2 use use NN work_6fmxppcvcrd2xlbjmj2hlbluna 11 3 permitted permit VBN work_6fmxppcvcrd2xlbjmj2hlbluna 11 4 under under IN work_6fmxppcvcrd2xlbjmj2hlbluna 11 5 CC CC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 11 6 BY- by- NN work_6fmxppcvcrd2xlbjmj2hlbluna 11 7 NC NC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 11 8 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 12 1 No no DT work_6fmxppcvcrd2xlbjmj2hlbluna 12 2 commercial commercial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 12 3 re- re- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 12 4 use use NN work_6fmxppcvcrd2xlbjmj2hlbluna 12 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 13 1 See see VB work_6fmxppcvcrd2xlbjmj2hlbluna 13 2 rights right NNS work_6fmxppcvcrd2xlbjmj2hlbluna 13 3 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 13 4 permissions permission NNS work_6fmxppcvcrd2xlbjmj2hlbluna 13 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 14 1 Published publish VBN work_6fmxppcvcrd2xlbjmj2hlbluna 14 2 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 14 3 BMJ BMJ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 14 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 15 1 ABSTRACT ABSTRACT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 15 2 Background Background NNP work_6fmxppcvcrd2xlbjmj2hlbluna 15 3 Congenital congenital JJ work_6fmxppcvcrd2xlbjmj2hlbluna 15 4 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 15 5 myopathies myopathy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 15 6 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 15 7 rare rare JJ work_6fmxppcvcrd2xlbjmj2hlbluna 15 8 pathologies pathology NNS work_6fmxppcvcrd2xlbjmj2hlbluna 15 9 characterised characterise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 15 10 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 15 11 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 15 12 weakness weakness NN work_6fmxppcvcrd2xlbjmj2hlbluna 15 13 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 15 14 rod- rod- RB work_6fmxppcvcrd2xlbjmj2hlbluna 15 15 shaped shaped JJ work_6fmxppcvcrd2xlbjmj2hlbluna 15 16 inclusions inclusion NNS work_6fmxppcvcrd2xlbjmj2hlbluna 15 17 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 15 18 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 15 19 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 15 20 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 15 21 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 16 1 Methods method NNS work_6fmxppcvcrd2xlbjmj2hlbluna 16 2 Using use VBG work_6fmxppcvcrd2xlbjmj2hlbluna 16 3 next- next- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 16 4 generation generation NN work_6fmxppcvcrd2xlbjmj2hlbluna 16 5 sequencing sequencing NN work_6fmxppcvcrd2xlbjmj2hlbluna 16 6 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 16 7 we -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 16 8 identified identify VBD work_6fmxppcvcrd2xlbjmj2hlbluna 16 9 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 16 10 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 16 11 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 16 12 pathogenic pathogenic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 16 13 variants variant NNS work_6fmxppcvcrd2xlbjmj2hlbluna 16 14 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 16 15 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 16 16 Troponin Troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 16 17 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 16 18 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 16 19 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 16 20 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 16 21 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 16 22 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 16 23 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 16 24 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 16 25 coding code VBG work_6fmxppcvcrd2xlbjmj2hlbluna 16 26 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 16 27 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 16 28 troponin troponin JJ work_6fmxppcvcrd2xlbjmj2hlbluna 16 29 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 16 30 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 16 31 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 16 32 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 16 33 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 16 34 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 16 35 isoform isoform NN work_6fmxppcvcrd2xlbjmj2hlbluna 16 36 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 17 1 Results result NNS work_6fmxppcvcrd2xlbjmj2hlbluna 17 2 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 17 3 clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 17 4 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 17 5 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 17 6 similar similar JJ work_6fmxppcvcrd2xlbjmj2hlbluna 17 7 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 17 8 all all DT work_6fmxppcvcrd2xlbjmj2hlbluna 17 9 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 17 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 17 11 associating associate VBG work_6fmxppcvcrd2xlbjmj2hlbluna 17 12 hypotonia hypotonia NNP work_6fmxppcvcrd2xlbjmj2hlbluna 17 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 17 14 orthopaedic orthopaedic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 17 15 deformities deformity NNS work_6fmxppcvcrd2xlbjmj2hlbluna 17 16 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 17 17 progressive progressive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 17 18 chronic chronic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 17 19 respiratory respiratory JJ work_6fmxppcvcrd2xlbjmj2hlbluna 17 20 failure failure NN work_6fmxppcvcrd2xlbjmj2hlbluna 17 21 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 17 22 leading lead VBG work_6fmxppcvcrd2xlbjmj2hlbluna 17 23 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 17 24 early early JJ work_6fmxppcvcrd2xlbjmj2hlbluna 17 25 death death NN work_6fmxppcvcrd2xlbjmj2hlbluna 17 26 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 18 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 18 2 anatomopathological anatomopathological JJ work_6fmxppcvcrd2xlbjmj2hlbluna 18 3 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 18 4 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 18 5 characterised characterise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 18 6 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 18 7 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 18 8 disproportion disproportion NN work_6fmxppcvcrd2xlbjmj2hlbluna 18 9 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 18 10 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 18 11 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 18 12 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 18 13 size size NN work_6fmxppcvcrd2xlbjmj2hlbluna 18 14 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 18 15 endomysial endomysial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 18 16 fibrosis fibrosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 18 17 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 18 18 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 18 19 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 18 20 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 19 1 Molecular molecular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 19 2 analyses analysis NNS work_6fmxppcvcrd2xlbjmj2hlbluna 19 3 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 4 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 5 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 19 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 19 7 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 19 8 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 9 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 10 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 19 11 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 19 12 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 19 13 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 19 14 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 15 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 19 16 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 19 17 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 19 18 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 19 19 heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 19 20 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 21 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 22 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 23 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 19 24 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 19 25 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 19 26 retention retention NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 27 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 28 part part NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 29 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 30 intron intron NNP work_6fmxppcvcrd2xlbjmj2hlbluna 19 31 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 19 32 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 33 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 34 transcripts transcript NNS work_6fmxppcvcrd2xlbjmj2hlbluna 19 35 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 36 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 19 37 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 19 38 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 19 39 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 19 40 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 19 41 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 19 42 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 19 43 very very RB work_6fmxppcvcrd2xlbjmj2hlbluna 19 44 early early JJ work_6fmxppcvcrd2xlbjmj2hlbluna 19 45 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 46 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 19 47 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 19 48 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 19 49 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 19 50 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 20 1 Western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 20 2 blot blot NN work_6fmxppcvcrd2xlbjmj2hlbluna 20 3 analyses analysis NNS work_6fmxppcvcrd2xlbjmj2hlbluna 20 4 confirmed confirm VBD work_6fmxppcvcrd2xlbjmj2hlbluna 20 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 20 6 absence absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 20 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 20 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 20 9 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 20 10 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 20 11 resulting result VBG work_6fmxppcvcrd2xlbjmj2hlbluna 20 12 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 20 13 these these DT work_6fmxppcvcrd2xlbjmj2hlbluna 20 14 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 20 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 21 1 Discussion discussion NN work_6fmxppcvcrd2xlbjmj2hlbluna 21 2 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 21 3 clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 21 4 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 21 5 anatomopathological anatomopathological JJ work_6fmxppcvcrd2xlbjmj2hlbluna 21 6 presentations presentation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 21 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 21 8 our -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 21 9 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 21 10 reinforce reinforce VBP work_6fmxppcvcrd2xlbjmj2hlbluna 21 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 21 12 homogeneous homogeneous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 21 13 character character NN work_6fmxppcvcrd2xlbjmj2hlbluna 21 14 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 21 15 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 21 16 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 21 17 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 21 18 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 21 19 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 21 20 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 21 21 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 21 22 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 22 1 Previous previous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 22 2 studies study NNS work_6fmxppcvcrd2xlbjmj2hlbluna 22 3 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 22 4 an an DT work_6fmxppcvcrd2xlbjmj2hlbluna 22 5 impact impact NN work_6fmxppcvcrd2xlbjmj2hlbluna 22 6 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 22 7 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 22 8 variants variant NNS work_6fmxppcvcrd2xlbjmj2hlbluna 22 9 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 22 10 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 22 11 tropomyosin- tropomyosin- NN work_6fmxppcvcrd2xlbjmj2hlbluna 22 12 binding bind VBG work_6fmxppcvcrd2xlbjmj2hlbluna 22 13 affinity affinity NN work_6fmxppcvcrd2xlbjmj2hlbluna 22 14 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 22 15 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 22 16 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 23 1 We -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 23 2 report report VBP work_6fmxppcvcrd2xlbjmj2hlbluna 23 3 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 23 4 our -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 23 5 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 23 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 23 7 complete complete JJ work_6fmxppcvcrd2xlbjmj2hlbluna 23 8 loss loss NN work_6fmxppcvcrd2xlbjmj2hlbluna 23 9 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 23 10 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 23 11 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 23 12 due due IN work_6fmxppcvcrd2xlbjmj2hlbluna 23 13 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 23 14 open open VB work_6fmxppcvcrd2xlbjmj2hlbluna 23 15 reading reading NN work_6fmxppcvcrd2xlbjmj2hlbluna 23 16 frame frame NN work_6fmxppcvcrd2xlbjmj2hlbluna 23 17 disruption disruption NN work_6fmxppcvcrd2xlbjmj2hlbluna 23 18 or or CC work_6fmxppcvcrd2xlbjmj2hlbluna 23 19 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 23 20 post- post- VB work_6fmxppcvcrd2xlbjmj2hlbluna 23 21 translational translational JJ work_6fmxppcvcrd2xlbjmj2hlbluna 23 22 degradation degradation NN work_6fmxppcvcrd2xlbjmj2hlbluna 23 23 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 23 24 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 23 25 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 24 1 INTRODUCTION introduction NN work_6fmxppcvcrd2xlbjmj2hlbluna 24 2 Congenital congenital JJ work_6fmxppcvcrd2xlbjmj2hlbluna 24 3 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 24 4 myopathies myopathy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 24 5 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 24 6 NMs NMs NNP work_6fmxppcvcrd2xlbjmj2hlbluna 24 7 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 24 8 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 24 9 rare rare JJ work_6fmxppcvcrd2xlbjmj2hlbluna 24 10 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 24 11 diseases disease NNS work_6fmxppcvcrd2xlbjmj2hlbluna 24 12 characterised characterise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 24 13 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 24 14 abnormal abnormal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 24 15 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 24 16 tone tone NN work_6fmxppcvcrd2xlbjmj2hlbluna 24 17 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 24 18 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 24 19 presence presence NN work_6fmxppcvcrd2xlbjmj2hlbluna 24 20 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 24 21 rod- rod- RB work_6fmxppcvcrd2xlbjmj2hlbluna 24 22 shaped shaped JJ work_6fmxppcvcrd2xlbjmj2hlbluna 24 23 inclusions inclusion NNS work_6fmxppcvcrd2xlbjmj2hlbluna 24 24 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 24 25 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 24 26 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 24 27 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 24 28 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 25 1 These these DT work_6fmxppcvcrd2xlbjmj2hlbluna 25 2 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 25 3 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 25 4 sometimes sometimes RB work_6fmxppcvcrd2xlbjmj2hlbluna 25 5 visible visible JJ work_6fmxppcvcrd2xlbjmj2hlbluna 25 6 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 25 7 light light NN work_6fmxppcvcrd2xlbjmj2hlbluna 25 8 microscopy microscopy JJ work_6fmxppcvcrd2xlbjmj2hlbluna 25 9 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 25 10 Gomori Gomori NNP work_6fmxppcvcrd2xlbjmj2hlbluna 25 11 trichrome trichrome NN work_6fmxppcvcrd2xlbjmj2hlbluna 25 12 staining staining NN work_6fmxppcvcrd2xlbjmj2hlbluna 25 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 26 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 2 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 26 3 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 26 4 located locate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 26 5 mainly mainly RB work_6fmxppcvcrd2xlbjmj2hlbluna 26 6 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 26 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 8 sarco- sarco- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 26 9 plasm plasm NN work_6fmxppcvcrd2xlbjmj2hlbluna 26 10 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 26 11 more more RBR work_6fmxppcvcrd2xlbjmj2hlbluna 26 12 rarely rarely RB work_6fmxppcvcrd2xlbjmj2hlbluna 26 13 inside inside IN work_6fmxppcvcrd2xlbjmj2hlbluna 26 14 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 15 nucleus.1 nucleus.1 UH work_6fmxppcvcrd2xlbjmj2hlbluna 26 16 They -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 26 17 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 26 18 more more RBR work_6fmxppcvcrd2xlbjmj2hlbluna 26 19 easily easily RB work_6fmxppcvcrd2xlbjmj2hlbluna 26 20 visualised visualise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 26 21 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 26 22 authenticated authenticate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 26 23 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 26 24 electron electron NNP work_6fmxppcvcrd2xlbjmj2hlbluna 26 25 microscopy microscopy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 26 26 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 26 27 they -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 26 28 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 26 29 composed compose VBN work_6fmxppcvcrd2xlbjmj2hlbluna 26 30 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 26 31 lattice- lattice- NNS work_6fmxppcvcrd2xlbjmj2hlbluna 26 32 like like IN work_6fmxppcvcrd2xlbjmj2hlbluna 26 33 filaments filament NNS work_6fmxppcvcrd2xlbjmj2hlbluna 26 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 26 35 resembling resemble VBG work_6fmxppcvcrd2xlbjmj2hlbluna 26 36 Z- Z- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 26 37 streaks streak NNS work_6fmxppcvcrd2xlbjmj2hlbluna 26 38 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 26 39 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 26 40 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 26 41 often often RB work_6fmxppcvcrd2xlbjmj2hlbluna 26 42 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 26 43 within within IN work_6fmxppcvcrd2xlbjmj2hlbluna 26 44 disorganised disorganise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 26 45 myofibrillar myofibrillar NNP work_6fmxppcvcrd2xlbjmj2hlbluna 26 46 networks.2 networks.2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 26 47 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 26 48 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 49 location location NN work_6fmxppcvcrd2xlbjmj2hlbluna 26 50 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 26 51 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 52 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 26 53 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 26 54 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 55 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 26 56 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 26 57 their -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 26 58 ultrastructural ultrastructural JJ work_6fmxppcvcrd2xlbjmj2hlbluna 26 59 appearance appearance NN work_6fmxppcvcrd2xlbjmj2hlbluna 26 60 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 26 61 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 62 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 26 63 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 26 64 that that WDT work_6fmxppcvcrd2xlbjmj2hlbluna 26 65 preferentially preferentially RB work_6fmxppcvcrd2xlbjmj2hlbluna 26 66 contains contain VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 26 67 them -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 26 68 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 26 69 all all DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 70 criteria criterion NNS work_6fmxppcvcrd2xlbjmj2hlbluna 26 71 that that WDT work_6fmxppcvcrd2xlbjmj2hlbluna 26 72 provide provide VBP work_6fmxppcvcrd2xlbjmj2hlbluna 26 73 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 26 74 genotype genotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 26 75 orientation orientation NN work_6fmxppcvcrd2xlbjmj2hlbluna 26 76 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 27 1 For for IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 2 example example NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 3 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 27 4 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 27 5 presence presence NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 6 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 7 intranuclear intranuclear JJ work_6fmxppcvcrd2xlbjmj2hlbluna 27 8 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 27 9 indicates indicate VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 27 10 that that IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 27 12 alpha- alpha- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 27 13 actin-1 actin-1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 27 14 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 27 15 ACTA1 ACTA1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 27 16 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 27 17 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 18 has have VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 27 19 been be VBN work_6fmxppcvcrd2xlbjmj2hlbluna 27 20 affected affect VBN work_6fmxppcvcrd2xlbjmj2hlbluna 27 21 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 27 22 whereas whereas IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 23 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 27 24 preferential preferential JJ work_6fmxppcvcrd2xlbjmj2hlbluna 27 25 location location NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 26 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 27 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 27 28 centre centre NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 29 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 30 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 27 31 sarcoplasm sarcoplasm NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 32 more more RBR work_6fmxppcvcrd2xlbjmj2hlbluna 27 33 strongly strongly RB work_6fmxppcvcrd2xlbjmj2hlbluna 27 34 suggests suggest VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 27 35 involvement involvement NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 36 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 37 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 27 38 Troponin Troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 27 39 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 27 40 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 41 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 27 42 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 27 43 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 27 44 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 27 45 gene.1 gene.1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 27 46 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 27 47 At at IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 48 least least JJS work_6fmxppcvcrd2xlbjmj2hlbluna 27 49 13 13 CD work_6fmxppcvcrd2xlbjmj2hlbluna 27 50 genes gene NNS work_6fmxppcvcrd2xlbjmj2hlbluna 27 51 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 27 52 currently currently RB work_6fmxppcvcrd2xlbjmj2hlbluna 27 53 known know VBN work_6fmxppcvcrd2xlbjmj2hlbluna 27 54 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 27 55 be be VB work_6fmxppcvcrd2xlbjmj2hlbluna 27 56 involved involve VBN work_6fmxppcvcrd2xlbjmj2hlbluna 27 57 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 27 58 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 27 59 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 28 1 They -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 28 2 encode encode VBP work_6fmxppcvcrd2xlbjmj2hlbluna 28 3 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 28 4 thin thin JJ work_6fmxppcvcrd2xlbjmj2hlbluna 28 5 filament filament NN work_6fmxppcvcrd2xlbjmj2hlbluna 28 6 proteins protein NNS work_6fmxppcvcrd2xlbjmj2hlbluna 28 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 28 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 28 9 skel- skel- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 10 etal etal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 11 muscle muscle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 12 sarcomere sarcomere RB work_6fmxppcvcrd2xlbjmj2hlbluna 28 13 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 28 14 nebulin nebulin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 15 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 16 actin actin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 17 alpha alpha NN work_6fmxppcvcrd2xlbjmj2hlbluna 28 18 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 28 19 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 20 beta- beta- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 28 21 tropomyosin-2 tropomyosin-2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 23 alpha- alpha- NN work_6fmxppcvcrd2xlbjmj2hlbluna 28 24 tropomyosin-3 tropomyosin-3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 25 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 26 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 27 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 28 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 28 29 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 28 30 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 31 cofilin-2 cofilin-2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 32 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 33 leiomodin-3 leiomodin-3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 34 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 28 35 LMOD3 LMOD3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 36 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 28 37 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 38 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 28 39 troponin-3 troponin-3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 40 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 28 41 myopalladin myopalladin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 42 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 28 43 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 44 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 28 45 Kelch Kelch NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 46 domain- domain- NN work_6fmxppcvcrd2xlbjmj2hlbluna 28 47 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 28 48 proteins protein NNS work_6fmxppcvcrd2xlbjmj2hlbluna 28 49 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 28 50 KBTBD13 KBTBD13 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 51 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 28 52 KLHL40 KLHL40 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 53 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 28 54 KLHL41 KLHL41 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 55 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 28 56 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 28 57 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 28 58 myosin myosin NN work_6fmxppcvcrd2xlbjmj2hlbluna 28 59 whose whose WP$ work_6fmxppcvcrd2xlbjmj2hlbluna 28 60 function function NN work_6fmxppcvcrd2xlbjmj2hlbluna 28 61 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 28 62 unknown unknown JJ work_6fmxppcvcrd2xlbjmj2hlbluna 28 63 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 28 64 MYO18B MYO18B NNP work_6fmxppcvcrd2xlbjmj2hlbluna 28 65 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 28 66 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 29 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 29 2 ryanodine ryanodine JJ work_6fmxppcvcrd2xlbjmj2hlbluna 29 3 receptor-3 receptor-3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 29 4 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 29 5 has have VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 29 6 also also RB work_6fmxppcvcrd2xlbjmj2hlbluna 29 7 been be VBN work_6fmxppcvcrd2xlbjmj2hlbluna 29 8 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 29 9 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 29 10 NM.5 NM.5 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 29 11 Genotyping Genotyping NNP work_6fmxppcvcrd2xlbjmj2hlbluna 29 12 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 29 13 now now RB work_6fmxppcvcrd2xlbjmj2hlbluna 29 14 easier easy JJR work_6fmxppcvcrd2xlbjmj2hlbluna 29 15 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 29 16 next- next- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 29 17 generation generation NNP work_6fmxppcvcrd2xlbjmj2hlbluna 29 18 sequencing sequencing NNP work_6fmxppcvcrd2xlbjmj2hlbluna 29 19 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 29 20 NGS)6 ngs)6 DT work_6fmxppcvcrd2xlbjmj2hlbluna 29 21 techniques technique NNS work_6fmxppcvcrd2xlbjmj2hlbluna 29 22 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 29 23 variants variant NNS work_6fmxppcvcrd2xlbjmj2hlbluna 29 24 can can MD work_6fmxppcvcrd2xlbjmj2hlbluna 29 25 be be VB work_6fmxppcvcrd2xlbjmj2hlbluna 29 26 detected detect VBN work_6fmxppcvcrd2xlbjmj2hlbluna 29 27 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 29 28 including include VBG work_6fmxppcvcrd2xlbjmj2hlbluna 29 29 small small JJ work_6fmxppcvcrd2xlbjmj2hlbluna 29 30 deletions deletion NNS work_6fmxppcvcrd2xlbjmj2hlbluna 29 31 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 29 32 insertions insertion NNS work_6fmxppcvcrd2xlbjmj2hlbluna 29 33 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 29 34 variations variation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 29 35 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 29 36 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 29 37 number number NN work_6fmxppcvcrd2xlbjmj2hlbluna 29 38 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 29 39 copies copy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 29 40 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 30 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 30 2 involvement involvement NN work_6fmxppcvcrd2xlbjmj2hlbluna 30 3 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 30 4 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 30 5 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 30 6 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 30 7 has have VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 30 8 been be VBN work_6fmxppcvcrd2xlbjmj2hlbluna 30 9 exceptionally exceptionally RB work_6fmxppcvcrd2xlbjmj2hlbluna 30 10 reported report VBN work_6fmxppcvcrd2xlbjmj2hlbluna 30 11 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 30 12 various various JJ work_6fmxppcvcrd2xlbjmj2hlbluna 30 13 populations population NNS work_6fmxppcvcrd2xlbjmj2hlbluna 30 14 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 31 1 Troponin Troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 31 2 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 31 3 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 31 4 one one CD work_6fmxppcvcrd2xlbjmj2hlbluna 31 5 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 31 6 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 31 7 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 31 8 subunits subunit NNS work_6fmxppcvcrd2xlbjmj2hlbluna 31 9 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 31 10 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 31 11 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 31 12 complex7 complex7 NN work_6fmxppcvcrd2xlbjmj2hlbluna 31 13 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 31 14 has have VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 31 15 been be VBN work_6fmxppcvcrd2xlbjmj2hlbluna 31 16 called call VBN work_6fmxppcvcrd2xlbjmj2hlbluna 31 17 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 31 18 ‘ ' `` work_6fmxppcvcrd2xlbjmj2hlbluna 31 19 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 31 20 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 31 21 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 31 22 isoform isoform NN work_6fmxppcvcrd2xlbjmj2hlbluna 31 23 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 31 24 troponin troponin JJ work_6fmxppcvcrd2xlbjmj2hlbluna 31 25 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 31 26 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 31 27 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 31 28 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 31 29 ’ ' '' work_6fmxppcvcrd2xlbjmj2hlbluna 31 30 because because IN work_6fmxppcvcrd2xlbjmj2hlbluna 31 31 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 31 32 its -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 31 33 presence presence NN work_6fmxppcvcrd2xlbjmj2hlbluna 31 34 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 31 35 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 31 36 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 31 37 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 31 38 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 31 39 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 32 1 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 32 2 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 32 3 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 32 4 responsible responsible JJ work_6fmxppcvcrd2xlbjmj2hlbluna 32 5 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 32 6 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 32 7 link link NN work_6fmxppcvcrd2xlbjmj2hlbluna 32 8 between between IN work_6fmxppcvcrd2xlbjmj2hlbluna 32 9 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 32 10 troponin troponin JJ work_6fmxppcvcrd2xlbjmj2hlbluna 32 11 complex complex NN work_6fmxppcvcrd2xlbjmj2hlbluna 32 12 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 32 13 tropomyosin tropomyosin NN work_6fmxppcvcrd2xlbjmj2hlbluna 32 14 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 32 15 Tm Tm NNP work_6fmxppcvcrd2xlbjmj2hlbluna 32 16 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 32 17 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 32 18 which which WDT work_6fmxppcvcrd2xlbjmj2hlbluna 32 19 helps help VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 32 20 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 32 21 regulate regulate VB work_6fmxppcvcrd2xlbjmj2hlbluna 32 22 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 32 23 contrac- contrac- NN work_6fmxppcvcrd2xlbjmj2hlbluna 32 24 tion.8 tion.8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 32 25 Patients Patients NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 32 26 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 32 27 NMs NMs NNP work_6fmxppcvcrd2xlbjmj2hlbluna 32 28 related relate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 32 29 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 32 30 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 32 31 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 32 32 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 32 33 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 32 34 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 32 35 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 32 36 show show NNP work_6fmxppcvcrd2xlbjmj2hlbluna 32 37 phenotypical phenotypical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 32 38 variability variability NN work_6fmxppcvcrd2xlbjmj2hlbluna 32 39 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 33 1 Initially initially RB work_6fmxppcvcrd2xlbjmj2hlbluna 33 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 33 3 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 33 4 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 33 5 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 33 6 implicated implicate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 33 7 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 33 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 33 9 so- so- XX work_6fmxppcvcrd2xlbjmj2hlbluna 33 10 called call VBN work_6fmxppcvcrd2xlbjmj2hlbluna 33 11 Amish Amish NNP work_6fmxppcvcrd2xlbjmj2hlbluna 33 12 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 33 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 33 14 which which WDT work_6fmxppcvcrd2xlbjmj2hlbluna 33 15 affects affect VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 33 16 consanguineous consanguineous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 33 17 Amish Amish NNP work_6fmxppcvcrd2xlbjmj2hlbluna 33 18 families,4 families,4 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 33 19 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 33 20 linked link VBN work_6fmxppcvcrd2xlbjmj2hlbluna 33 21 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 33 22 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 33 23 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 33 24 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 33 25 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 33 26 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 33 27 11 11 CD work_6fmxppcvcrd2xlbjmj2hlbluna 33 28 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 33 29 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 33 30 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 34 1 Since since IN work_6fmxppcvcrd2xlbjmj2hlbluna 34 2 then then RB work_6fmxppcvcrd2xlbjmj2hlbluna 34 3 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 34 4 13 13 CD work_6fmxppcvcrd2xlbjmj2hlbluna 34 5 other other JJ work_6fmxppcvcrd2xlbjmj2hlbluna 34 6 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 34 7 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 34 8 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 34 9 have have VBP work_6fmxppcvcrd2xlbjmj2hlbluna 34 10 been be VBN work_6fmxppcvcrd2xlbjmj2hlbluna 34 11 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 34 12 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 34 13 implicating implicate VBG work_6fmxppcvcrd2xlbjmj2hlbluna 34 14 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 34 15 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 34 16 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 34 17 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 34 18 autosomal autosomal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 34 19 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 34 20 inheritance inheritance NN work_6fmxppcvcrd2xlbjmj2hlbluna 34 21 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 34 22 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 34 23 Dutch dutch JJ work_6fmxppcvcrd2xlbjmj2hlbluna 34 24 patients9 patients9 NN work_6fmxppcvcrd2xlbjmj2hlbluna 34 25 from from IN 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, , work_6fmxppcvcrd2xlbjmj2hlbluna 35 4 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 35 5 new new JJ work_6fmxppcvcrd2xlbjmj2hlbluna 35 6 hetero- hetero- NN work_6fmxppcvcrd2xlbjmj2hlbluna 35 7 zygous zygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 35 8 missense missense NN work_6fmxppcvcrd2xlbjmj2hlbluna 35 9 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 35 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 35 11 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 35 12 c.311A c.311A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 35 13 > > . work_6fmxppcvcrd2xlbjmj2hlbluna 35 14 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 35 15 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 35 16 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 35 17 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 35 18 E104V e104v CD work_6fmxppcvcrd2xlbjmj2hlbluna 35 19 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 35 20 described,11 described,11 NN work_6fmxppcvcrd2xlbjmj2hlbluna 35 21 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 35 22 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 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NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 31 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 32 ttp ttp NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 33 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 36 34 //jm //jm . work_6fmxppcvcrd2xlbjmj2hlbluna 36 35 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 36 .b .b . work_6fmxppcvcrd2xlbjmj2hlbluna 36 37 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 38 j.co j.co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 39 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 40 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 36 41 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 42 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 43 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 44 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 45 G g NN work_6fmxppcvcrd2xlbjmj2hlbluna 36 46 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 47 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 48 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 49 t t NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 50 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 36 51 first first RB 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NNP work_6fmxppcvcrd2xlbjmj2hlbluna 36 95 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 36 96 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 36 97 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 36 98 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 36 99 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 37 1 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 2 o o NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 3 w w NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 4 n n XX work_6fmxppcvcrd2xlbjmj2hlbluna 37 5 lo lo NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 37 7 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 8 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 9 d d NN work_6fmxppcvcrd2xlbjmj2hlbluna 37 10 fro fro NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 11 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 12 http://jmg.bmj.com/ http://jmg.bmj.com/ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 13 http://orcid.org/0000-0002-0377-0807 http://orcid.org/0000-0002-0377-0807 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 14 http://orcid.org/0000-0001-5508-1678 http://orcid.org/0000-0001-5508-1678 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 15 http://orcid.org/0000-0002-5931-7454 http://orcid.org/0000-0002-5931-7454 '' work_6fmxppcvcrd2xlbjmj2hlbluna 37 16 http://crossmark.crossref.org/dialog/?doi=10.1136/jmedgenet-2019-106714&domain=pdf&date_stamp=2020-09-29 http://crossmark.crossref.org/dialog/?doi=10.1136/jmedgenet-2019-106714&domain=pdf&date_stamp=2020-09-29 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 17 http://jmg.bmj.com/ http://jmg.bmj.com/ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 18 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 37 19 Géraud Géraud NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 20 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 21 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 37 22 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 23   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 37 24 al al NNP work_6fmxppcvcrd2xlbjmj2hlbluna 37 25 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 38 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 38 2 Med Med NNP work_6fmxppcvcrd2xlbjmj2hlbluna 38 3 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 38 4 2020;0:1–7 2020;0:1–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 38 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 39 1 doi:10.1136 doi:10.1136 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 39 2 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 39 3 jmedgenet-2019 jmedgenet-2019 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 39 4 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 39 5 106714 106714 CD work_6fmxppcvcrd2xlbjmj2hlbluna 39 6 Diagnostics Diagnostics NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 39 7 We -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 39 8 describe describe VBP work_6fmxppcvcrd2xlbjmj2hlbluna 39 9 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 39 10 new new JJ work_6fmxppcvcrd2xlbjmj2hlbluna 39 11 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 39 12 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 39 13 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 39 14 due due IN work_6fmxppcvcrd2xlbjmj2hlbluna 39 15 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 39 16 recessive recessive JJ 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work_6fmxppcvcrd2xlbjmj2hlbluna 39 35 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 39 36 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 39 37 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 39 38 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 39 39 mRNA mRNA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 39 40 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 39 41 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 39 42 levels level NNS work_6fmxppcvcrd2xlbjmj2hlbluna 39 43 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 40 1 MATERIALS material NNS work_6fmxppcvcrd2xlbjmj2hlbluna 40 2 AND and CC work_6fmxppcvcrd2xlbjmj2hlbluna 40 3 METHODS methods JJ work_6fmxppcvcrd2xlbjmj2hlbluna 40 4 Patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 40 5 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 40 6 recruited recruit VBN work_6fmxppcvcrd2xlbjmj2hlbluna 40 7 through through IN work_6fmxppcvcrd2xlbjmj2hlbluna 40 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 40 9 French french JJ work_6fmxppcvcrd2xlbjmj2hlbluna 40 10 national 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work_6fmxppcvcrd2xlbjmj2hlbluna 41 12 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 41 13 French french JJ work_6fmxppcvcrd2xlbjmj2hlbluna 41 14 legislation legislation NN work_6fmxppcvcrd2xlbjmj2hlbluna 41 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 42 1 Sequencing Sequencing NNP work_6fmxppcvcrd2xlbjmj2hlbluna 42 2 Sanger Sanger NNP work_6fmxppcvcrd2xlbjmj2hlbluna 42 3 sequencing sequencing NN work_6fmxppcvcrd2xlbjmj2hlbluna 42 4 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 42 5 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 42 6 coding coding NN work_6fmxppcvcrd2xlbjmj2hlbluna 42 7 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 42 8 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 42 9 performed perform VBN work_6fmxppcvcrd2xlbjmj2hlbluna 42 10 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 42 11 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 42 12 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 42 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 43 1 NGS NGS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 43 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 43 3 performed perform VBN work_6fmxppcvcrd2xlbjmj2hlbluna 43 4 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 43 5 extracted extracted JJ work_6fmxppcvcrd2xlbjmj2hlbluna 43 6 DNAs dna NNS work_6fmxppcvcrd2xlbjmj2hlbluna 43 7 using use VBG work_6fmxppcvcrd2xlbjmj2hlbluna 43 8 customised customise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 43 9 designs design NNS work_6fmxppcvcrd2xlbjmj2hlbluna 43 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 43 11 myopathy myopathy JJ work_6fmxppcvcrd2xlbjmj2hlbluna 43 12 genes gene NNS work_6fmxppcvcrd2xlbjmj2hlbluna 43 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 43 14 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 43 15 previously previously RB work_6fmxppcvcrd2xlbjmj2hlbluna 43 16 reported.6 reported.6 VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 43 17 An an DT work_6fmxppcvcrd2xlbjmj2hlbluna 43 18 in- in- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 43 19 house house NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 20 bioinformatics bioinformatics FW work_6fmxppcvcrd2xlbjmj2hlbluna 43 21 spreadsheet spreadsheet NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 22 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 43 23 implemented implement VBN work_6fmxppcvcrd2xlbjmj2hlbluna 43 24 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 43 25 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 43 26 copy copy NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 27 number number NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 28 variation variation NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 29 analyses analysis NNS work_6fmxppcvcrd2xlbjmj2hlbluna 43 30 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 43 31 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 43 32 previously previously RB work_6fmxppcvcrd2xlbjmj2hlbluna 43 33 reported.6 reported.6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 43 34 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 43 35 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 43 36 used use VBN work_6fmxppcvcrd2xlbjmj2hlbluna 43 37 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 43 38 analyse analyse VB work_6fmxppcvcrd2xlbjmj2hlbluna 43 39 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 43 40 intersample intersample JJ work_6fmxppcvcrd2xlbjmj2hlbluna 43 41 normalised normalise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 43 42 depth depth NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 43 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 43 44 coverage coverage NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 45 per per IN work_6fmxppcvcrd2xlbjmj2hlbluna 43 46 exon exon NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 47 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 43 48 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 43 49 given give VBN work_6fmxppcvcrd2xlbjmj2hlbluna 43 50 run run NN work_6fmxppcvcrd2xlbjmj2hlbluna 43 51 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 44 1 cDNAs cDNAs NNP work_6fmxppcvcrd2xlbjmj2hlbluna 44 2 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 44 3 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 44 4 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 44 5 tran- tran- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 44 6 scripts script NNS work_6fmxppcvcrd2xlbjmj2hlbluna 44 7 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 44 8 analysed analyse VBN work_6fmxppcvcrd2xlbjmj2hlbluna 44 9 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 44 10 mRNA mRNA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 44 11 extracted extract VBN work_6fmxppcvcrd2xlbjmj2hlbluna 44 12 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 44 13 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 44 14 biopsies biopsy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 44 15 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 44 16 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 44 17 total total JJ work_6fmxppcvcrd2xlbjmj2hlbluna 44 18 transcripts transcript NNS work_6fmxppcvcrd2xlbjmj2hlbluna 44 19 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 44 20 amplified amplify VBN work_6fmxppcvcrd2xlbjmj2hlbluna 44 21 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 44 22 sequenced sequence VBN work_6fmxppcvcrd2xlbjmj2hlbluna 44 23 after after IN work_6fmxppcvcrd2xlbjmj2hlbluna 44 24 frag- frag- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 44 25 mentation mentation NN work_6fmxppcvcrd2xlbjmj2hlbluna 44 26 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 44 27 library library JJ work_6fmxppcvcrd2xlbjmj2hlbluna 44 28 preparation preparation NN work_6fmxppcvcrd2xlbjmj2hlbluna 44 29 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 44 30 NEBNEXT NEBNEXT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 44 31 New New NNP work_6fmxppcvcrd2xlbjmj2hlbluna 44 32 England England NNP work_6fmxppcvcrd2xlbjmj2hlbluna 44 33 Biolabs Biolabs NNP work_6fmxppcvcrd2xlbjmj2hlbluna 44 34 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 44 35 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 45 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 45 2 library library NN work_6fmxppcvcrd2xlbjmj2hlbluna 45 3 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 45 4 then then RB work_6fmxppcvcrd2xlbjmj2hlbluna 45 5 sequenced sequence VBN work_6fmxppcvcrd2xlbjmj2hlbluna 45 6 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 45 7 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 45 8 PGM PGM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 45 9 IonTorrent IonTorrent NNP work_6fmxppcvcrd2xlbjmj2hlbluna 45 10 platform platform NN work_6fmxppcvcrd2xlbjmj2hlbluna 45 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 46 1 Transcript Transcript NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 2 sequences sequence NNS work_6fmxppcvcrd2xlbjmj2hlbluna 46 3 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 46 4 splice splice NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 5 junctions junction NNS work_6fmxppcvcrd2xlbjmj2hlbluna 46 6 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 46 7 anal- anal- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 46 8 ysed yse VBN work_6fmxppcvcrd2xlbjmj2hlbluna 46 9 using use VBG work_6fmxppcvcrd2xlbjmj2hlbluna 46 10 RNASTAR RNASTAR NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 11 software.12 software.12 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 12 Western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 46 13 blot blot NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 14 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 46 15 amount amount NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 16 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 46 17 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 46 18 muscle- muscle- NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 19 specific specific JJ work_6fmxppcvcrd2xlbjmj2hlbluna 46 20 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 21 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 22 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 46 23 sTNT stnt NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 24 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 46 25 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 46 26 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 46 27 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 28 sample sample NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 29 biopsies biopsy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 46 30 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 46 31 determined determine VBN work_6fmxppcvcrd2xlbjmj2hlbluna 46 32 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 46 33 western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 46 34 blot blot NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 35 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 36 using use VBG work_6fmxppcvcrd2xlbjmj2hlbluna 46 37 antibodies antibody NNS work_6fmxppcvcrd2xlbjmj2hlbluna 46 38 directed direct VBN work_6fmxppcvcrd2xlbjmj2hlbluna 46 39 against against IN work_6fmxppcvcrd2xlbjmj2hlbluna 46 40 sTNT stnt NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 41 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 46 42 Mab- Mab- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 43 CT3 CT3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 44 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 46 45 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 46 46 tubulin tubulin NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 47 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 46 48 Mab- Mab- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 49 Tub Tub NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 50 V.2.1 V.2.1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 46 51 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 46 52 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 46 53 loading load VBG work_6fmxppcvcrd2xlbjmj2hlbluna 46 54 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 55 sample sample NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 56 control control NN work_6fmxppcvcrd2xlbjmj2hlbluna 46 57 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 47 1 Muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 2 homogenates homogenate NNS work_6fmxppcvcrd2xlbjmj2hlbluna 47 3 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 47 4 prepared prepare VBN work_6fmxppcvcrd2xlbjmj2hlbluna 47 5 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 47 6 frozen frozen JJ work_6fmxppcvcrd2xlbjmj2hlbluna 47 7 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 8 biopsy biopsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 9 using use VBG work_6fmxppcvcrd2xlbjmj2hlbluna 47 10 Minilys Minilys NNP work_6fmxppcvcrd2xlbjmj2hlbluna 47 11 homogeniser homogeniser NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 12 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 47 13 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 47 14 previously.13 previously.13 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 47 15 Twenty Twenty NNP work_6fmxppcvcrd2xlbjmj2hlbluna 47 16 micro- micro- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 47 17 grams gram NNS work_6fmxppcvcrd2xlbjmj2hlbluna 47 18 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 47 19 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 20 homogenates homogenate NNS work_6fmxppcvcrd2xlbjmj2hlbluna 47 21 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 47 22 separated separate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 47 23 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 47 24 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 47 25 12 12 CD work_6fmxppcvcrd2xlbjmj2hlbluna 47 26 % % NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 27 acryl- acryl- NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 28 amide amide NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 29 gel gel NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 30 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 47 31 Biorad Biorad NNP work_6fmxppcvcrd2xlbjmj2hlbluna 47 32 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 47 33 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 47 34 transferred transfer VBN work_6fmxppcvcrd2xlbjmj2hlbluna 47 35 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 47 36 immobilon immobilon NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 37 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 47 38 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 47 39 previously.13 previously.13 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 47 40 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 47 41 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 47 42 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 47 43 an an DT work_6fmxppcvcrd2xlbjmj2hlbluna 47 44 age- age- RB work_6fmxppcvcrd2xlbjmj2hlbluna 47 45 matched match VBN work_6fmxppcvcrd2xlbjmj2hlbluna 47 46 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 47 47 3.5 3.5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 47 48 years year NNS work_6fmxppcvcrd2xlbjmj2hlbluna 47 49 old old JJ work_6fmxppcvcrd2xlbjmj2hlbluna 47 50 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 47 51 non- non- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 47 52 affected affect VBD work_6fmxppcvcrd2xlbjmj2hlbluna 47 53 control control NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 54 sample sample NN work_6fmxppcvcrd2xlbjmj2hlbluna 47 55 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 47 56 tested test VBN work_6fmxppcvcrd2xlbjmj2hlbluna 47 57 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 48 1 RESULTS RESULTS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 48 2 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 48 3 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 48 4 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 48 5 27- 27- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 48 6 month- month- NN work_6fmxppcvcrd2xlbjmj2hlbluna 48 7 old old JJ work_6fmxppcvcrd2xlbjmj2hlbluna 48 8 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 48 9 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 48 10 born bear VBN work_6fmxppcvcrd2xlbjmj2hlbluna 48 11 full- full- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 48 12 term term NN work_6fmxppcvcrd2xlbjmj2hlbluna 48 13 after after IN work_6fmxppcvcrd2xlbjmj2hlbluna 48 14 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 48 15 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 48 16 pregnancy pregnancy NN work_6fmxppcvcrd2xlbjmj2hlbluna 48 17 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 48 18 non- non- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 48 19 consanguineous consanguineous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 48 20 parents parent NNS work_6fmxppcvcrd2xlbjmj2hlbluna 48 21 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 48 22 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 48 23 Basque basque JJ work_6fmxppcvcrd2xlbjmj2hlbluna 48 24 region region NN work_6fmxppcvcrd2xlbjmj2hlbluna 48 25 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 48 26 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 48 27 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 49 1 She -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 49 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 49 3 eutrophic eutrophic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 49 4 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 49 5 showed show VBD work_6fmxppcvcrd2xlbjmj2hlbluna 49 6 no no DT work_6fmxppcvcrd2xlbjmj2hlbluna 49 7 difficulty difficulty NN work_6fmxppcvcrd2xlbjmj2hlbluna 49 8 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 49 9 adapting adapt VBG work_6fmxppcvcrd2xlbjmj2hlbluna 49 10 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 49 11 extrauterine extrauterine VB work_6fmxppcvcrd2xlbjmj2hlbluna 49 12 life life NN work_6fmxppcvcrd2xlbjmj2hlbluna 49 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 50 1 No no DT work_6fmxppcvcrd2xlbjmj2hlbluna 50 2 specific specific JJ work_6fmxppcvcrd2xlbjmj2hlbluna 50 3 clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 50 4 signs sign NNS work_6fmxppcvcrd2xlbjmj2hlbluna 50 5 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 50 6 noted note VBN work_6fmxppcvcrd2xlbjmj2hlbluna 50 7 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 50 8 birth birth NN work_6fmxppcvcrd2xlbjmj2hlbluna 50 9 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 51 1 She -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 51 2 had have VBD work_6fmxppcvcrd2xlbjmj2hlbluna 51 3 one one CD work_6fmxppcvcrd2xlbjmj2hlbluna 51 4 older old JJR work_6fmxppcvcrd2xlbjmj2hlbluna 51 5 brother brother NN work_6fmxppcvcrd2xlbjmj2hlbluna 51 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 52 1 Axial axial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 52 2 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 52 3 periph- periph- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 52 4 eral eral NNP work_6fmxppcvcrd2xlbjmj2hlbluna 52 5 hypotonia hypotonia NNP work_6fmxppcvcrd2xlbjmj2hlbluna 52 6 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 52 7 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 52 8 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 52 9 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 52 10 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 52 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 52 12 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 52 13 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 52 14 facial facial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 52 15 hypomimia hypomimia NN work_6fmxppcvcrd2xlbjmj2hlbluna 52 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 52 17 ‘ ' `` work_6fmxppcvcrd2xlbjmj2hlbluna 52 18 fishmouth fishmouth NNP work_6fmxppcvcrd2xlbjmj2hlbluna 52 19 ’ ' '' work_6fmxppcvcrd2xlbjmj2hlbluna 52 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 52 21 non- non- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 52 22 specific specific JJ work_6fmxppcvcrd2xlbjmj2hlbluna 52 23 painful painful JJ work_6fmxppcvcrd2xlbjmj2hlbluna 52 24 manifestations manifestation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 52 25 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 52 26 tremor tremor NN work_6fmxppcvcrd2xlbjmj2hlbluna 52 27 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 53 1 Respiratory respiratory JJ work_6fmxppcvcrd2xlbjmj2hlbluna 53 2 insufficiency insufficiency NN work_6fmxppcvcrd2xlbjmj2hlbluna 53 3 appeared appear VBD work_6fmxppcvcrd2xlbjmj2hlbluna 53 4 gradually gradually RB work_6fmxppcvcrd2xlbjmj2hlbluna 53 5 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 53 6 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 53 7 secondary secondary JJ work_6fmxppcvcrd2xlbjmj2hlbluna 53 8 thoracic thoracic NNP work_6fmxppcvcrd2xlbjmj2hlbluna 53 9 dystrophy dystrophy NN work_6fmxppcvcrd2xlbjmj2hlbluna 53 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 53 11 requiring require VBG work_6fmxppcvcrd2xlbjmj2hlbluna 53 12 ventilatory ventilatory NN work_6fmxppcvcrd2xlbjmj2hlbluna 53 13 support support NN work_6fmxppcvcrd2xlbjmj2hlbluna 53 14 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 53 15 nocturnal nocturnal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 53 16 non- non- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 53 17 invasive invasive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 53 18 ventilation ventilation NN work_6fmxppcvcrd2xlbjmj2hlbluna 53 19 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 53 20 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 53 21 age age NN work_6fmxppcvcrd2xlbjmj2hlbluna 53 22 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 53 23 16 16 CD work_6fmxppcvcrd2xlbjmj2hlbluna 53 24 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 53 25 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 54 1 She -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 54 2 had have VBD work_6fmxppcvcrd2xlbjmj2hlbluna 54 3 areflexia areflexia NN work_6fmxppcvcrd2xlbjmj2hlbluna 54 4 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 54 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 54 6 four four CD work_6fmxppcvcrd2xlbjmj2hlbluna 54 7 limbs limb NNS work_6fmxppcvcrd2xlbjmj2hlbluna 54 8 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 55 1 At at IN work_6fmxppcvcrd2xlbjmj2hlbluna 55 2 17 17 CD work_6fmxppcvcrd2xlbjmj2hlbluna 55 3 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 55 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 55 5 she -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 55 6 showed show VBD work_6fmxppcvcrd2xlbjmj2hlbluna 55 7 axial axial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 55 8 weakness weakness NN work_6fmxppcvcrd2xlbjmj2hlbluna 55 9 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 55 10 inability inability NN work_6fmxppcvcrd2xlbjmj2hlbluna 55 11 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 55 12 hold hold VB work_6fmxppcvcrd2xlbjmj2hlbluna 55 13 her -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 55 14 head head NN work_6fmxppcvcrd2xlbjmj2hlbluna 55 15 up up RP work_6fmxppcvcrd2xlbjmj2hlbluna 55 16 or or CC work_6fmxppcvcrd2xlbjmj2hlbluna 55 17 maintain maintain VB work_6fmxppcvcrd2xlbjmj2hlbluna 55 18 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 55 19 sitting sit VBG work_6fmxppcvcrd2xlbjmj2hlbluna 55 20 position position NN work_6fmxppcvcrd2xlbjmj2hlbluna 55 21 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 55 22 contrasting contrast VBG work_6fmxppcvcrd2xlbjmj2hlbluna 55 23 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 55 24 better well JJR work_6fmxppcvcrd2xlbjmj2hlbluna 55 25 distal distal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 55 26 mobility mobility NN work_6fmxppcvcrd2xlbjmj2hlbluna 55 27 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 56 1 Asymmetrical asymmetrical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 56 2 cervical cervical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 56 3 stiffness stiffness NN work_6fmxppcvcrd2xlbjmj2hlbluna 56 4 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 56 5 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 56 6 early early RB work_6fmxppcvcrd2xlbjmj2hlbluna 56 7 on on RB work_6fmxppcvcrd2xlbjmj2hlbluna 56 8 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 56 9 as as RB work_6fmxppcvcrd2xlbjmj2hlbluna 56 10 well well RB work_6fmxppcvcrd2xlbjmj2hlbluna 56 11 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 56 12 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 56 13 limitation limitation NN work_6fmxppcvcrd2xlbjmj2hlbluna 56 14 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 56 15 hip hip NN work_6fmxppcvcrd2xlbjmj2hlbluna 56 16 abduction abduction NN work_6fmxppcvcrd2xlbjmj2hlbluna 56 17 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 56 18 knee knee NN work_6fmxppcvcrd2xlbjmj2hlbluna 56 19 retraction retraction NN work_6fmxppcvcrd2xlbjmj2hlbluna 56 20 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 57 1 A a DT work_6fmxppcvcrd2xlbjmj2hlbluna 57 2 rapidly rapidly RB work_6fmxppcvcrd2xlbjmj2hlbluna 57 3 progressing progress VBG work_6fmxppcvcrd2xlbjmj2hlbluna 57 4 kyphoscoliosis kyphoscoliosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 57 5 required require VBD work_6fmxppcvcrd2xlbjmj2hlbluna 57 6 treatment treatment NN work_6fmxppcvcrd2xlbjmj2hlbluna 57 7 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 57 8 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 57 9 rigid rigid JJ work_6fmxppcvcrd2xlbjmj2hlbluna 57 10 brace brace NN work_6fmxppcvcrd2xlbjmj2hlbluna 57 11 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 57 12 20 20 CD work_6fmxppcvcrd2xlbjmj2hlbluna 57 13 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 57 14 onward onward RB work_6fmxppcvcrd2xlbjmj2hlbluna 57 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 58 1 Failure failure NN work_6fmxppcvcrd2xlbjmj2hlbluna 58 2 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 58 3 thrive thrive VB work_6fmxppcvcrd2xlbjmj2hlbluna 58 4 prompted prompt VBD work_6fmxppcvcrd2xlbjmj2hlbluna 58 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 58 6 placement placement NN work_6fmxppcvcrd2xlbjmj2hlbluna 58 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 58 8 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 58 9 gastrostomy gastrostomy NN work_6fmxppcvcrd2xlbjmj2hlbluna 58 10 tube tube NN work_6fmxppcvcrd2xlbjmj2hlbluna 58 11 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 58 12 enteral enteral JJ work_6fmxppcvcrd2xlbjmj2hlbluna 58 13 nutrition nutrition NN work_6fmxppcvcrd2xlbjmj2hlbluna 58 14 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 58 15 20 20 CD work_6fmxppcvcrd2xlbjmj2hlbluna 58 16 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 58 17 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 59 1 Her -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 59 2 cognitive cognitive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 59 3 abilities ability NNS work_6fmxppcvcrd2xlbjmj2hlbluna 59 4 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 59 5 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 59 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 60 1 Death death NN work_6fmxppcvcrd2xlbjmj2hlbluna 60 2 occurred occur VBD work_6fmxppcvcrd2xlbjmj2hlbluna 60 3 suddenly suddenly RB work_6fmxppcvcrd2xlbjmj2hlbluna 60 4 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 60 5 29 29 CD work_6fmxppcvcrd2xlbjmj2hlbluna 60 6 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 60 7 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 61 1 Creatine creatine VB work_6fmxppcvcrd2xlbjmj2hlbluna 61 2 phosphokinase phosphokinase NN work_6fmxppcvcrd2xlbjmj2hlbluna 61 3 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 61 4 CPK CPK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 61 5 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 61 6 testing testing NN work_6fmxppcvcrd2xlbjmj2hlbluna 61 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 61 8 echocardiog- echocardiog- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 61 9 raphy raphy NN work_6fmxppcvcrd2xlbjmj2hlbluna 61 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 61 11 electroneuromyography electroneuromyography NN work_6fmxppcvcrd2xlbjmj2hlbluna 61 12 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 61 13 an an DT work_6fmxppcvcrd2xlbjmj2hlbluna 61 14 MRI MRI NNP work_6fmxppcvcrd2xlbjmj2hlbluna 61 15 cerebrospinal cerebrospinal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 61 16 flow flow NN work_6fmxppcvcrd2xlbjmj2hlbluna 61 17 study study NN work_6fmxppcvcrd2xlbjmj2hlbluna 61 18 showed show VBD work_6fmxppcvcrd2xlbjmj2hlbluna 61 19 no no DT work_6fmxppcvcrd2xlbjmj2hlbluna 61 20 abnormalities abnormality NNS work_6fmxppcvcrd2xlbjmj2hlbluna 61 21 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 62 1 There there EX work_6fmxppcvcrd2xlbjmj2hlbluna 62 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 62 3 no no DT work_6fmxppcvcrd2xlbjmj2hlbluna 62 4 phrenic phrenic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 62 5 palsy palsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 62 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 63 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 63 2 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 3 biopsy biopsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 4 performed perform VBD work_6fmxppcvcrd2xlbjmj2hlbluna 63 5 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 63 6 15 15 CD work_6fmxppcvcrd2xlbjmj2hlbluna 63 7 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 63 8 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 63 9 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 63 10 clear clear JJ work_6fmxppcvcrd2xlbjmj2hlbluna 63 11 dispro- dispro- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 63 12 portion portion NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 13 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 63 14 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 15 size size NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 63 17 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 63 18 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 19 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 63 20 fibres fibre VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 63 21 consistently consistently RB work_6fmxppcvcrd2xlbjmj2hlbluna 63 22 smaller small JJR work_6fmxppcvcrd2xlbjmj2hlbluna 63 23 than than IN work_6fmxppcvcrd2xlbjmj2hlbluna 63 24 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 25 II II NNP work_6fmxppcvcrd2xlbjmj2hlbluna 63 26 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 63 27 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 63 28 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 63 29 dissolution dissolution NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 30 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 63 31 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 63 32 myofibrillar myofibrillar JJ work_6fmxppcvcrd2xlbjmj2hlbluna 63 33 network network NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 34 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 63 35 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 63 36 centre centre NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 37 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 63 38 certain certain JJ work_6fmxppcvcrd2xlbjmj2hlbluna 63 39 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 63 40 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 63 41 early early JJ work_6fmxppcvcrd2xlbjmj2hlbluna 63 42 endomysial endomysial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 63 43 fibrosis fibrosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 63 44 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 63 45 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 63 46 rare rare JJ work_6fmxppcvcrd2xlbjmj2hlbluna 63 47 vacuolated vacuolate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 63 48 degenerative degenerative JJ work_6fmxppcvcrd2xlbjmj2hlbluna 63 49 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 63 50 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 64 1 Ultrastructural ultrastructural JJ work_6fmxppcvcrd2xlbjmj2hlbluna 64 2 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 64 3 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 64 4 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 64 5 large large JJ work_6fmxppcvcrd2xlbjmj2hlbluna 64 6 number number NN work_6fmxppcvcrd2xlbjmj2hlbluna 64 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 64 8 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 64 9 located locate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 64 10 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 64 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 64 12 centre centre NN work_6fmxppcvcrd2xlbjmj2hlbluna 64 13 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 64 14 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 64 15 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 64 16 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 64 17 areas area NNS work_6fmxppcvcrd2xlbjmj2hlbluna 64 18 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 64 19 sarcomeric sarcomeric JJ work_6fmxppcvcrd2xlbjmj2hlbluna 64 20 disorganisation disorganisation NN work_6fmxppcvcrd2xlbjmj2hlbluna 64 21 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 64 22 figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 64 23 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 64 24 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 64 25 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 65 1 NGS NGS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 65 2 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 65 3 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 65 4 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 65 5 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 65 6 exon exon NN work_6fmxppcvcrd2xlbjmj2hlbluna 65 7 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 65 8 intron intron NNP work_6fmxppcvcrd2xlbjmj2hlbluna 65 9 junctions junction NNS work_6fmxppcvcrd2xlbjmj2hlbluna 65 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 65 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 65 12 genes gene NNS work_6fmxppcvcrd2xlbjmj2hlbluna 65 13 involved involve VBN work_6fmxppcvcrd2xlbjmj2hlbluna 65 14 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 65 15 congenital congenital JJ work_6fmxppcvcrd2xlbjmj2hlbluna 65 16 myopathies myopathy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 65 17 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 65 18 muscular muscular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 65 19 dystrophies dystrophy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 65 20 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 65 21 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 65 22 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 65 23 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 65 24 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 65 25 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 65 26 8–9 8–9 NFP work_6fmxppcvcrd2xlbjmj2hlbluna 65 27 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 65 28 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 65 29 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 65 30 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 65 31 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 65 32 figure figure NNP work_6fmxppcvcrd2xlbjmj2hlbluna 65 33 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 65 34 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 65 35 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 66 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 66 2 bound- bound- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 66 3 aries arie NNS work_6fmxppcvcrd2xlbjmj2hlbluna 66 4 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 66 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 66 6 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 7 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 66 8 determined determine VBN work_6fmxppcvcrd2xlbjmj2hlbluna 66 9 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 66 10 genomic genomic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 66 11 sequencing sequencing NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 12 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 66 13 hg19chr2 hg19chr2 NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 14 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 66 15 g.55650633_55652981del g.55650633_55652981del NNP work_6fmxppcvcrd2xlbjmj2hlbluna 66 16 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 66 17 NM_003283.5 NM_003283.5 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 66 18 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 66 19 c.192 c.192 NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 20 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 66 21 244_388- 244_388- CD work_6fmxppcvcrd2xlbjmj2hlbluna 66 22 1191del).1 1191del).1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 66 23 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 66 24 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 25 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 66 26 predicted predict VBD work_6fmxppcvcrd2xlbjmj2hlbluna 66 27 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 66 28 be be VB work_6fmxppcvcrd2xlbjmj2hlbluna 66 29 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 66 30 frame frame NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 31 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 66 32 removed remove VBD work_6fmxppcvcrd2xlbjmj2hlbluna 66 33 part part NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 34 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 66 35 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 66 36 functionally functionally RB work_6fmxppcvcrd2xlbjmj2hlbluna 66 37 important important JJ work_6fmxppcvcrd2xlbjmj2hlbluna 66 38 Tm- tm- IN work_6fmxppcvcrd2xlbjmj2hlbluna 66 39 binding bind VBG work_6fmxppcvcrd2xlbjmj2hlbluna 66 40 site site NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 41 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 66 42 domain domain NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 43 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 66 44 figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 66 45 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 66 46 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 66 47 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 67 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 67 2 family family NN work_6fmxppcvcrd2xlbjmj2hlbluna 67 3 segregation segregation NN work_6fmxppcvcrd2xlbjmj2hlbluna 67 4 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 67 5 concluded conclude VBD work_6fmxppcvcrd2xlbjmj2hlbluna 67 6 that that IN work_6fmxppcvcrd2xlbjmj2hlbluna 67 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 67 8 child child NN work_6fmxppcvcrd2xlbjmj2hlbluna 67 9 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 67 10 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 67 11 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 67 12 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 67 13 variation variation NN work_6fmxppcvcrd2xlbjmj2hlbluna 67 14 since since IN work_6fmxppcvcrd2xlbjmj2hlbluna 67 15 she -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 67 16 had have VBD work_6fmxppcvcrd2xlbjmj2hlbluna 67 17 inherited inherit VBN work_6fmxppcvcrd2xlbjmj2hlbluna 67 18 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 67 19 mutated mutate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 67 20 allele allele RB work_6fmxppcvcrd2xlbjmj2hlbluna 67 21 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 67 22 each each DT work_6fmxppcvcrd2xlbjmj2hlbluna 67 23 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 67 24 her -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 67 25 parents parent NNS work_6fmxppcvcrd2xlbjmj2hlbluna 67 26 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 67 27 table table NN work_6fmxppcvcrd2xlbjmj2hlbluna 67 28 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 67 29 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 67 30 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 68 1 Figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 68 2 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 68 3 Representative representative JJ work_6fmxppcvcrd2xlbjmj2hlbluna 68 4 frozen frozen JJ work_6fmxppcvcrd2xlbjmj2hlbluna 68 5 sections section NNS work_6fmxppcvcrd2xlbjmj2hlbluna 68 6 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 68 7 A a DT work_6fmxppcvcrd2xlbjmj2hlbluna 68 8 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 68 9 E e NN work_6fmxppcvcrd2xlbjmj2hlbluna 68 10 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 68 11 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 68 12 electronic electronic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 68 13 microscopy microscopy JJ work_6fmxppcvcrd2xlbjmj2hlbluna 68 14 images image NNS work_6fmxppcvcrd2xlbjmj2hlbluna 68 15 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 68 16 F F NNP work_6fmxppcvcrd2xlbjmj2hlbluna 68 17 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 68 18 H H NNP work_6fmxppcvcrd2xlbjmj2hlbluna 68 19 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 68 20 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 69 1 Gomori gomori VB work_6fmxppcvcrd2xlbjmj2hlbluna 69 2 trichrome trichrome NN work_6fmxppcvcrd2xlbjmj2hlbluna 69 3 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 69 4 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 69 5 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 69 6 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 69 7 A a NN work_6fmxppcvcrd2xlbjmj2hlbluna 69 8 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 69 9 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 69 10 marked mark VBN work_6fmxppcvcrd2xlbjmj2hlbluna 69 11 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 69 12 size size NN work_6fmxppcvcrd2xlbjmj2hlbluna 69 13 irregularity irregularity NN work_6fmxppcvcrd2xlbjmj2hlbluna 69 14 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 70 1 Rare rare JJ work_6fmxppcvcrd2xlbjmj2hlbluna 70 2 atrophic atrophic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 70 3 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 70 4 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 70 5 hyaline hyaline NN work_6fmxppcvcrd2xlbjmj2hlbluna 70 6 core- core- NN work_6fmxppcvcrd2xlbjmj2hlbluna 70 7 like like IN work_6fmxppcvcrd2xlbjmj2hlbluna 70 8 intracytoplasmic intracytoplasmic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 70 9 inclusions inclusion NNS work_6fmxppcvcrd2xlbjmj2hlbluna 70 10 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 70 11 white white NNP work_6fmxppcvcrd2xlbjmj2hlbluna 70 12 arrows arrow NNS work_6fmxppcvcrd2xlbjmj2hlbluna 70 13 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 70 14 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 70 15 slight slight JJ work_6fmxppcvcrd2xlbjmj2hlbluna 70 16 increased increase VBN work_6fmxppcvcrd2xlbjmj2hlbluna 70 17 endomysial endomysial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 70 18 connective connective JJ work_6fmxppcvcrd2xlbjmj2hlbluna 70 19 tissue tissue NN work_6fmxppcvcrd2xlbjmj2hlbluna 70 20 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 71 1 Patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 71 2 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 71 3 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 71 4 B b NN work_6fmxppcvcrd2xlbjmj2hlbluna 71 5 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 71 6 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 71 7 numerous numerous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 71 8 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 71 9 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 71 10 endomysial endomysial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 71 11 fibrosis fibrosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 71 12 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 72 1 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 72 2 3 3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 72 3 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 72 4 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 72 5 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 72 6 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 72 7 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 72 8 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 72 9 visualised visualise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 72 10 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 72 11 disorganised disorganise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 72 12 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 72 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 73 1 ATPase ATPase NNP work_6fmxppcvcrd2xlbjmj2hlbluna 73 2 pH pH NNP work_6fmxppcvcrd2xlbjmj2hlbluna 73 3 4.6 4.6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 73 4 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 73 5 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 73 6 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 73 7 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 73 8 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 73 9 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 73 10 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 73 11 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 73 12 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 73 13 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 73 14 E e NN work_6fmxppcvcrd2xlbjmj2hlbluna 73 15 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 73 16 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 73 17 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 73 18 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 73 19 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 73 20 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 73 21 dark dark JJ work_6fmxppcvcrd2xlbjmj2hlbluna 73 22 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 73 23 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 73 24 IIA IIA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 73 25 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 73 26 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 73 27 pale pale JJ work_6fmxppcvcrd2xlbjmj2hlbluna 73 28 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 73 29 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 73 30 IIB IIB NNP work_6fmxppcvcrd2xlbjmj2hlbluna 73 31 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 73 32 intermediate intermediate JJ work_6fmxppcvcrd2xlbjmj2hlbluna 73 33 stained stain VBN work_6fmxppcvcrd2xlbjmj2hlbluna 73 34 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 73 35 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 73 36 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 73 37 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 73 38 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 73 39 irregular irregular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 73 40 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 73 41 smaller small JJR work_6fmxppcvcrd2xlbjmj2hlbluna 73 42 than than IN work_6fmxppcvcrd2xlbjmj2hlbluna 73 43 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 73 44 II II NNP work_6fmxppcvcrd2xlbjmj2hlbluna 73 45 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 74 1 No no DT work_6fmxppcvcrd2xlbjmj2hlbluna 74 2 myopathic myopathic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 74 3 grouping grouping NN work_6fmxppcvcrd2xlbjmj2hlbluna 74 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 75 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 75 2 proportion proportion NN work_6fmxppcvcrd2xlbjmj2hlbluna 75 3 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 75 4 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 75 5 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 75 6 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 75 7 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 75 8 II II NNP work_6fmxppcvcrd2xlbjmj2hlbluna 75 9 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 75 10 preserved preserve VBN work_6fmxppcvcrd2xlbjmj2hlbluna 75 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 76 1 No no DT work_6fmxppcvcrd2xlbjmj2hlbluna 76 2 fibre- fibre- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 76 3 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 76 4 grouping grouping NN work_6fmxppcvcrd2xlbjmj2hlbluna 76 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 77 1 Ultrastructure ultrastructure NN work_6fmxppcvcrd2xlbjmj2hlbluna 77 2 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 77 3 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 77 4 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 77 5 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 77 6 F f NN work_6fmxppcvcrd2xlbjmj2hlbluna 77 7 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 77 8 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 77 9 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 77 10 sarcomere sarcomere JJ work_6fmxppcvcrd2xlbjmj2hlbluna 77 11 structure structure NN work_6fmxppcvcrd2xlbjmj2hlbluna 77 12 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 77 13 disrupted disrupt VBN work_6fmxppcvcrd2xlbjmj2hlbluna 77 14 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 77 15 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 77 16 large large JJ work_6fmxppcvcrd2xlbjmj2hlbluna 77 17 circumscribed circumscribe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 77 18 central central JJ work_6fmxppcvcrd2xlbjmj2hlbluna 77 19 area area NN work_6fmxppcvcrd2xlbjmj2hlbluna 77 20 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 77 21 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 77 22 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 77 23 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 77 24 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 77 25 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 77 26 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 77 27 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 77 28 right right JJ work_6fmxppcvcrd2xlbjmj2hlbluna 77 29 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 77 30 white white JJ work_6fmxppcvcrd2xlbjmj2hlbluna 77 31 arrows arrow NNS work_6fmxppcvcrd2xlbjmj2hlbluna 77 32 showing show VBG work_6fmxppcvcrd2xlbjmj2hlbluna 77 33 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 77 34 outlines outline NNS work_6fmxppcvcrd2xlbjmj2hlbluna 77 35 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 77 36 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 77 37 area area NN work_6fmxppcvcrd2xlbjmj2hlbluna 77 38 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 77 39 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 78 1 Rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 78 2 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 78 3 visualised visualise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 78 4 within within IN work_6fmxppcvcrd2xlbjmj2hlbluna 78 5 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 78 6 area area NN work_6fmxppcvcrd2xlbjmj2hlbluna 78 7 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 78 8 white white NNP work_6fmxppcvcrd2xlbjmj2hlbluna 78 9 arrow arrow NNP work_6fmxppcvcrd2xlbjmj2hlbluna 78 10 heads head NNS work_6fmxppcvcrd2xlbjmj2hlbluna 78 11 showed show VBD work_6fmxppcvcrd2xlbjmj2hlbluna 78 12 some some DT work_6fmxppcvcrd2xlbjmj2hlbluna 78 13 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 78 14 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 78 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 79 1 Detail detail NN work_6fmxppcvcrd2xlbjmj2hlbluna 79 2 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 79 3 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 79 4 typical typical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 79 5 rod rod NN work_6fmxppcvcrd2xlbjmj2hlbluna 79 6 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 79 7 homogeneous homogeneous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 79 8 lattice lattice NN work_6fmxppcvcrd2xlbjmj2hlbluna 79 9 Z z XX work_6fmxppcvcrd2xlbjmj2hlbluna 79 10 disk- disk- XX work_6fmxppcvcrd2xlbjmj2hlbluna 79 11 like like IN work_6fmxppcvcrd2xlbjmj2hlbluna 79 12 structure structure NN work_6fmxppcvcrd2xlbjmj2hlbluna 79 13 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 79 14 continuity continuity NN work_6fmxppcvcrd2xlbjmj2hlbluna 79 15 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 79 16 thin thin JJ work_6fmxppcvcrd2xlbjmj2hlbluna 79 17 filaments filament NNS work_6fmxppcvcrd2xlbjmj2hlbluna 79 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 80 1 Patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 80 2 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 80 3 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 80 4 G g NN work_6fmxppcvcrd2xlbjmj2hlbluna 80 5 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 80 6 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 80 7 numerous numerous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 80 8 electron electron NNP work_6fmxppcvcrd2xlbjmj2hlbluna 80 9 dense dense JJ work_6fmxppcvcrd2xlbjmj2hlbluna 80 10 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 80 11 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 80 12 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 80 13 disorganised disorganised JJ work_6fmxppcvcrd2xlbjmj2hlbluna 80 14 area area NN work_6fmxppcvcrd2xlbjmj2hlbluna 80 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 81 1 Patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 81 2 3 3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 81 3 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 81 4 H h NN work_6fmxppcvcrd2xlbjmj2hlbluna 81 5 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 81 6 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 81 7 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 81 8 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 81 9 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 81 10 throughout throughout IN work_6fmxppcvcrd2xlbjmj2hlbluna 81 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 81 12 cytoplasm cytoplasm NN work_6fmxppcvcrd2xlbjmj2hlbluna 81 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 82 1 Detail detail NN work_6fmxppcvcrd2xlbjmj2hlbluna 82 2 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 82 3 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 82 4 typical typical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 82 5 rod rod NN work_6fmxppcvcrd2xlbjmj2hlbluna 82 6 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 82 7 lattice lattice NN work_6fmxppcvcrd2xlbjmj2hlbluna 82 8 structure structure NN work_6fmxppcvcrd2xlbjmj2hlbluna 82 9 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 83 1 o o XX work_6fmxppcvcrd2xlbjmj2hlbluna 83 2 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 3 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 4 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 83 5 ril ril NN work_6fmxppcvcrd2xlbjmj2hlbluna 83 6 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 83 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 83 8 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 83 9 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 83 10 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 83 11 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 83 12 b b NN work_6fmxppcvcrd2xlbjmj2hlbluna 83 13 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 14 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 15 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 16 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 17 st st NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 83 19 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 20 ro ro CC work_6fmxppcvcrd2xlbjmj2hlbluna 83 21 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 22 cte cte NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 23 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 24 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 25 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 26 co co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 27 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 28 yrig yrig NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 29 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 83 30 t. t. 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work_6fmxppcvcrd2xlbjmj2hlbluna 93 24 pectus pectus NN work_6fmxppcvcrd2xlbjmj2hlbluna 93 25 carinatum carinatum NN work_6fmxppcvcrd2xlbjmj2hlbluna 93 26 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 93 27 about about RB work_6fmxppcvcrd2xlbjmj2hlbluna 93 28 14 14 CD work_6fmxppcvcrd2xlbjmj2hlbluna 93 29 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 93 30 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 94 1 She -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 94 2 developed develop VBD work_6fmxppcvcrd2xlbjmj2hlbluna 94 3 better well JJR work_6fmxppcvcrd2xlbjmj2hlbluna 94 4 motor motor NN work_6fmxppcvcrd2xlbjmj2hlbluna 94 5 skills skill NNS work_6fmxppcvcrd2xlbjmj2hlbluna 94 6 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 94 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 94 8 forearms forearm NNS work_6fmxppcvcrd2xlbjmj2hlbluna 94 9 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 94 10 legs leg NNS work_6fmxppcvcrd2xlbjmj2hlbluna 94 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 95 1 There there EX work_6fmxppcvcrd2xlbjmj2hlbluna 95 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 95 3 no no DT work_6fmxppcvcrd2xlbjmj2hlbluna 95 4 cardiomyopathy cardiomyopathy JJ work_6fmxppcvcrd2xlbjmj2hlbluna 95 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 96 1 Language language NN work_6fmxppcvcrd2xlbjmj2hlbluna 96 2 developments development NNS work_6fmxppcvcrd2xlbjmj2hlbluna 96 3 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 96 4 interactions interaction NNS work_6fmxppcvcrd2xlbjmj2hlbluna 96 5 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 96 6 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 96 7 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 96 8 her -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 96 9 age age NN work_6fmxppcvcrd2xlbjmj2hlbluna 96 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 97 1 Death death NN work_6fmxppcvcrd2xlbjmj2hlbluna 97 2 occurred occur VBD work_6fmxppcvcrd2xlbjmj2hlbluna 97 3 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 97 4 16 16 CD work_6fmxppcvcrd2xlbjmj2hlbluna 97 5 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 97 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 98 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 98 2 brain brain NN work_6fmxppcvcrd2xlbjmj2hlbluna 98 3 MRI MRI NNP work_6fmxppcvcrd2xlbjmj2hlbluna 98 4 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 98 5 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 98 6 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 98 7 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 98 8 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 98 9 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 98 10 CPK CPK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 98 11 values value NNS work_6fmxppcvcrd2xlbjmj2hlbluna 98 12 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 99 1 Elec- Elec- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 99 2 troneuromyography troneuromyography NNP work_6fmxppcvcrd2xlbjmj2hlbluna 99 3 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 99 4 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 99 5 myogenic myogenic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 99 6 pattern pattern NN work_6fmxppcvcrd2xlbjmj2hlbluna 99 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 99 8 but but CC work_6fmxppcvcrd2xlbjmj2hlbluna 99 9 some some DT work_6fmxppcvcrd2xlbjmj2hlbluna 99 10 sequences sequence NNS work_6fmxppcvcrd2xlbjmj2hlbluna 99 11 have have VBP work_6fmxppcvcrd2xlbjmj2hlbluna 99 12 neurogenic neurogenic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 99 13 potentials potential NNS work_6fmxppcvcrd2xlbjmj2hlbluna 99 14 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 99 15 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 99 16 anterior anterior JJ work_6fmxppcvcrd2xlbjmj2hlbluna 99 17 leg leg NN work_6fmxppcvcrd2xlbjmj2hlbluna 99 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 100 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 100 2 quadriceps quadriceps JJ work_6fmxppcvcrd2xlbjmj2hlbluna 100 3 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 100 4 biopsy biopsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 100 5 performed perform VBD work_6fmxppcvcrd2xlbjmj2hlbluna 100 6 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 100 7 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 100 8 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 100 9 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 100 10 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 100 11 favour favour NN work_6fmxppcvcrd2xlbjmj2hlbluna 100 12 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 100 13 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 100 14 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 101 1 Many many JJ work_6fmxppcvcrd2xlbjmj2hlbluna 101 2 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 101 3 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 101 4 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 101 5 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 101 6 contained contain VBD work_6fmxppcvcrd2xlbjmj2hlbluna 101 7 clusters cluster NNS work_6fmxppcvcrd2xlbjmj2hlbluna 101 8 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 101 9 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 101 10 distributed distribute VBN work_6fmxppcvcrd2xlbjmj2hlbluna 101 11 over over IN work_6fmxppcvcrd2xlbjmj2hlbluna 101 12 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 101 13 entire entire JJ work_6fmxppcvcrd2xlbjmj2hlbluna 101 14 cytoplasm cytoplasm NN work_6fmxppcvcrd2xlbjmj2hlbluna 101 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 102 1 Numerous numerous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 102 2 annular annular NN work_6fmxppcvcrd2xlbjmj2hlbluna 102 3 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 102 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 102 5 irregularly irregularly RB work_6fmxppcvcrd2xlbjmj2hlbluna 102 6 sized sized JJ work_6fmxppcvcrd2xlbjmj2hlbluna 102 7 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 102 8 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 102 9 endomysial endomysial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 102 10 fibrosis fibrosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 102 11 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 102 12 also also RB work_6fmxppcvcrd2xlbjmj2hlbluna 102 13 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 102 14 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 103 1 No no DT work_6fmxppcvcrd2xlbjmj2hlbluna 103 2 correlation correlation NN work_6fmxppcvcrd2xlbjmj2hlbluna 103 3 between between IN work_6fmxppcvcrd2xlbjmj2hlbluna 103 4 alterations alteration NNS work_6fmxppcvcrd2xlbjmj2hlbluna 103 5 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 103 6 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 103 7 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 103 8 could could MD work_6fmxppcvcrd2xlbjmj2hlbluna 103 9 be be VB work_6fmxppcvcrd2xlbjmj2hlbluna 103 10 made make VBN work_6fmxppcvcrd2xlbjmj2hlbluna 103 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 103 12 although although IN work_6fmxppcvcrd2xlbjmj2hlbluna 103 13 most most JJS work_6fmxppcvcrd2xlbjmj2hlbluna 103 14 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 103 15 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 103 16 small small JJ work_6fmxppcvcrd2xlbjmj2hlbluna 103 17 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 103 18 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 103 19 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 103 20 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 103 21 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 104 1 Ultra- Ultra- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 104 2 structural structural JJ work_6fmxppcvcrd2xlbjmj2hlbluna 104 3 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 104 4 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 104 5 numerous numerous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 104 6 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 104 7 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 104 8 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 104 9 zones zone NNS work_6fmxppcvcrd2xlbjmj2hlbluna 104 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 104 11 disorganised disorganise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 104 12 structure structure NN work_6fmxppcvcrd2xlbjmj2hlbluna 104 13 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 104 14 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 104 15 distributed distribute VBN work_6fmxppcvcrd2xlbjmj2hlbluna 104 16 throughout throughout IN work_6fmxppcvcrd2xlbjmj2hlbluna 104 17 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 104 18 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 104 19 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 105 1 Autophagic autophagic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 105 2 elements element NNS work_6fmxppcvcrd2xlbjmj2hlbluna 105 3 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 105 4 also also RB work_6fmxppcvcrd2xlbjmj2hlbluna 105 5 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 105 6 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 105 7 several several JJ work_6fmxppcvcrd2xlbjmj2hlbluna 105 8 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 105 9 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 105 10 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 105 11 figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 105 12 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 105 13 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 105 14 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 106 1 Molecular Molecular NNP work_6fmxppcvcrd2xlbjmj2hlbluna 106 2 NGS NGS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 106 3 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 4 detected detect VBD work_6fmxppcvcrd2xlbjmj2hlbluna 106 5 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 106 6 heterozy- heterozy- NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 7 gous gous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 106 8 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 9 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 10 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 106 11 c.334G c.334G NNP work_6fmxppcvcrd2xlbjmj2hlbluna 106 12 > > XX work_6fmxppcvcrd2xlbjmj2hlbluna 106 13 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 106 14 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 106 15 p. p. NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 16 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 106 17 Glu112 glu112 ADD work_6fmxppcvcrd2xlbjmj2hlbluna 106 18 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 106 19 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 106 20 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 106 21 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 106 22 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 106 23 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 106 24 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 106 25 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 106 26 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 27 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 28 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 106 29 leading lead VBG work_6fmxppcvcrd2xlbjmj2hlbluna 106 30 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 106 31 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 106 32 stop stop NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 33 codon codon NN work_6fmxppcvcrd2xlbjmj2hlbluna 106 34 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 106 35 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 106 36 allele allele NNP work_6fmxppcvcrd2xlbjmj2hlbluna 106 37 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 107 1 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 107 2 addition addition NN work_6fmxppcvcrd2xlbjmj2hlbluna 107 3 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 107 4 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 107 5 study study NN work_6fmxppcvcrd2xlbjmj2hlbluna 107 6 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 107 7 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 107 8 transcripts transcript NNS work_6fmxppcvcrd2xlbjmj2hlbluna 107 9 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 107 10 muscle muscle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 107 11 biopsy biopsy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 107 12 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 107 13 partial partial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 107 14 intronic intronic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 107 15 retention retention NN work_6fmxppcvcrd2xlbjmj2hlbluna 107 16 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 107 17 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 107 18 last last JJ work_6fmxppcvcrd2xlbjmj2hlbluna 107 19 65 65 CD work_6fmxppcvcrd2xlbjmj2hlbluna 107 20 bases basis NNS work_6fmxppcvcrd2xlbjmj2hlbluna 107 21 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 107 22 intron intron NNP work_6fmxppcvcrd2xlbjmj2hlbluna 107 23 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 107 24 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 107 25 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 107 26 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 107 27 predicted predict VBD work_6fmxppcvcrd2xlbjmj2hlbluna 107 28 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 107 29 interrupt interrupt VB work_6fmxppcvcrd2xlbjmj2hlbluna 107 30 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 107 31 reading reading NN work_6fmxppcvcrd2xlbjmj2hlbluna 107 32 frame frame NN work_6fmxppcvcrd2xlbjmj2hlbluna 107 33 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 107 34 figure figure NNP work_6fmxppcvcrd2xlbjmj2hlbluna 107 35 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 107 36 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 107 37 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 108 1 Genomic genomic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 108 2 sequencing sequencing NN work_6fmxppcvcrd2xlbjmj2hlbluna 108 3 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 108 4 intron intron NNP work_6fmxppcvcrd2xlbjmj2hlbluna 108 5 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 108 6 then then RB work_6fmxppcvcrd2xlbjmj2hlbluna 108 7 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 108 8 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 108 9 variant variant JJ work_6fmxppcvcrd2xlbjmj2hlbluna 108 10 c.74 c.74 NN work_6fmxppcvcrd2xlbjmj2hlbluna 108 11 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 108 12 67C 67c CD work_6fmxppcvcrd2xlbjmj2hlbluna 108 13 > > FW work_6fmxppcvcrd2xlbjmj2hlbluna 108 14 A a DT work_6fmxppcvcrd2xlbjmj2hlbluna 108 15 predicted predict VBN work_6fmxppcvcrd2xlbjmj2hlbluna 108 16 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 108 17 activate activate VB work_6fmxppcvcrd2xlbjmj2hlbluna 108 18 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 108 19 splice- splice- NN work_6fmxppcvcrd2xlbjmj2hlbluna 108 20 accepting accept VBG work_6fmxppcvcrd2xlbjmj2hlbluna 108 21 cryptic cryptic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 108 22 site site NN work_6fmxppcvcrd2xlbjmj2hlbluna 108 23 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 108 24 Human Human NNP work_6fmxppcvcrd2xlbjmj2hlbluna 108 25 Splicing Splicing NNP work_6fmxppcvcrd2xlbjmj2hlbluna 108 26 Finder Finder NNP work_6fmxppcvcrd2xlbjmj2hlbluna 108 27 score score NN work_6fmxppcvcrd2xlbjmj2hlbluna 108 28 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 108 29 92.21 92.21 CD work_6fmxppcvcrd2xlbjmj2hlbluna 108 30 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 108 31 MaxEntScan MaxEntScan NNP work_6fmxppcvcrd2xlbjmj2hlbluna 108 32 12.24 12.24 CD work_6fmxppcvcrd2xlbjmj2hlbluna 108 33 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 108 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 108 35 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 108 36 agreement agreement NN work_6fmxppcvcrd2xlbjmj2hlbluna 108 37 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 108 38 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 108 39 transcript transcript JJ work_6fmxppcvcrd2xlbjmj2hlbluna 108 40 pattern pattern NN work_6fmxppcvcrd2xlbjmj2hlbluna 108 41 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 108 42 figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 108 43 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 108 44 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 108 45 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 109 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 109 2 western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 109 3 blot blot NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 4 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 5 further further RB work_6fmxppcvcrd2xlbjmj2hlbluna 109 6 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 109 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 109 8 absence absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 9 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 109 10 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 109 11 sTNT stnt JJ work_6fmxppcvcrd2xlbjmj2hlbluna 109 12 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 13 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 109 14 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 109 15 presence presence NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 16 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 109 17 those those DT work_6fmxppcvcrd2xlbjmj2hlbluna 109 18 two two CD work_6fmxppcvcrd2xlbjmj2hlbluna 109 19 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 109 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 109 21 confirming confirm VBG work_6fmxppcvcrd2xlbjmj2hlbluna 109 22 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 23 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 24 involvement involvement NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 25 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 109 26 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 109 27 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 28 ’s ’s POS work_6fmxppcvcrd2xlbjmj2hlbluna 109 29 pathology pathology NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 30 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 109 31 figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 109 32 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 109 33 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 109 34 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 110 1 Patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 110 2 3 3 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 110 3 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 110 4 6- 6- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 110 5 month- month- NN work_6fmxppcvcrd2xlbjmj2hlbluna 110 6 old old JJ work_6fmxppcvcrd2xlbjmj2hlbluna 110 7 child child NN work_6fmxppcvcrd2xlbjmj2hlbluna 110 8 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 110 9 born bear VBN work_6fmxppcvcrd2xlbjmj2hlbluna 110 10 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 110 11 37 37 CD work_6fmxppcvcrd2xlbjmj2hlbluna 110 12 weeks week NNS work_6fmxppcvcrd2xlbjmj2hlbluna 110 13 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 110 14 had have VBD work_6fmxppcvcrd2xlbjmj2hlbluna 110 15 no no DT work_6fmxppcvcrd2xlbjmj2hlbluna 110 16 difficulty difficulty NN work_6fmxppcvcrd2xlbjmj2hlbluna 110 17 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 110 18 adapting adapt VBG work_6fmxppcvcrd2xlbjmj2hlbluna 110 19 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 110 20 extrauterine extrauterine VB work_6fmxppcvcrd2xlbjmj2hlbluna 110 21 life life NN work_6fmxppcvcrd2xlbjmj2hlbluna 110 22 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 111 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 111 2 parents parent NNS work_6fmxppcvcrd2xlbjmj2hlbluna 111 3 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 111 4 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 111 5 North north JJ work_6fmxppcvcrd2xlbjmj2hlbluna 111 6 African african JJ work_6fmxppcvcrd2xlbjmj2hlbluna 111 7 Figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 111 8 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 111 9 Homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 111 10 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 111 11 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 111 12 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 111 13 8–9 8–9 NFP work_6fmxppcvcrd2xlbjmj2hlbluna 111 14 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 111 15 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 111 16 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 111 17 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 111 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 112 1 Integrative Integrative NNP work_6fmxppcvcrd2xlbjmj2hlbluna 112 2 Genomics Genomics NNP work_6fmxppcvcrd2xlbjmj2hlbluna 112 3 Viewer Viewer NNP work_6fmxppcvcrd2xlbjmj2hlbluna 112 4 visualisation visualisation NN work_6fmxppcvcrd2xlbjmj2hlbluna 112 5 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 112 6 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 112 7 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 112 8 identified identify VBN work_6fmxppcvcrd2xlbjmj2hlbluna 112 9 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 112 10 NGS NGS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 112 11 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 112 12 case1 case1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 112 13 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 112 14 I401 I401 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 112 15 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 112 16 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 113 1 Precise precise JJ work_6fmxppcvcrd2xlbjmj2hlbluna 113 2 breakpoint breakpoint NN work_6fmxppcvcrd2xlbjmj2hlbluna 113 3 determination determination NN work_6fmxppcvcrd2xlbjmj2hlbluna 113 4 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 113 5 further further RB work_6fmxppcvcrd2xlbjmj2hlbluna 113 6 obtained obtain VBN work_6fmxppcvcrd2xlbjmj2hlbluna 113 7 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 113 8 Sanger Sanger NNP work_6fmxppcvcrd2xlbjmj2hlbluna 113 9 sequencing sequencing NN work_6fmxppcvcrd2xlbjmj2hlbluna 113 10 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 113 11 hg19chr2 hg19chr2 NN work_6fmxppcvcrd2xlbjmj2hlbluna 113 12 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 113 13 g.55650633_55652981del g.55650633_55652981del NN work_6fmxppcvcrd2xlbjmj2hlbluna 113 14 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 113 15 NM_003283.5 NM_003283.5 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 113 16 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 113 17 c.192 c.192 NN work_6fmxppcvcrd2xlbjmj2hlbluna 113 18 + + NNP work_6fmxppcvcrd2xlbjmj2hlbluna 113 19 244_388- 244_388- CD work_6fmxppcvcrd2xlbjmj2hlbluna 113 20 1191del 1191del CD work_6fmxppcvcrd2xlbjmj2hlbluna 113 21 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 113 22 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 114 1 NGS NGS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 114 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 114 3 next- next- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 114 4 generation generation NN work_6fmxppcvcrd2xlbjmj2hlbluna 114 5 sequencing sequencing NN work_6fmxppcvcrd2xlbjmj2hlbluna 114 6 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 114 7 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 114 8 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 114 9 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 114 10 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 114 11 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 114 12 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 114 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 115 1 Figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 115 2 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 115 3 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 115 4 variants variant NNS work_6fmxppcvcrd2xlbjmj2hlbluna 115 5 identified identify VBN work_6fmxppcvcrd2xlbjmj2hlbluna 115 6 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 115 7 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 115 8 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 116 1 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 116 2 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 116 3 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 116 4 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 116 5 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 116 6 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 116 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 116 8 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 116 9 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 116 10 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 116 11 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 116 12 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 116 13 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 116 14 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 116 15 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 116 16 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 117 1 These these DT work_6fmxppcvcrd2xlbjmj2hlbluna 117 2 two two CD work_6fmxppcvcrd2xlbjmj2hlbluna 117 3 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 117 4 encode encode VBP work_6fmxppcvcrd2xlbjmj2hlbluna 117 5 part part NN work_6fmxppcvcrd2xlbjmj2hlbluna 117 6 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 117 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 117 8 Tm1 tm1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 117 9 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 117 10 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 117 11 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 117 12 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 117 13 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 117 14 T. T. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 117 15 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 117 16 two two CD work_6fmxppcvcrd2xlbjmj2hlbluna 117 17 carried carry VBD work_6fmxppcvcrd2xlbjmj2hlbluna 117 18 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 117 19 heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 117 20 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 117 21 variant variant JJ work_6fmxppcvcrd2xlbjmj2hlbluna 117 22 c.334G c.334G NNP work_6fmxppcvcrd2xlbjmj2hlbluna 117 23 > > XX work_6fmxppcvcrd2xlbjmj2hlbluna 117 24 T t NN work_6fmxppcvcrd2xlbjmj2hlbluna 117 25 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 117 26 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 117 27 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 117 28 leading lead VBG work_6fmxppcvcrd2xlbjmj2hlbluna 117 29 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 117 30 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 117 31 predicted predict VBN work_6fmxppcvcrd2xlbjmj2hlbluna 117 32 stop stop NN work_6fmxppcvcrd2xlbjmj2hlbluna 117 33 codon codon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 117 34 p.(Glu112 p.(Glu112 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 117 35 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 117 36 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 117 37 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 117 38 Tm1 Tm1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 117 39 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 118 1 Through through IN work_6fmxppcvcrd2xlbjmj2hlbluna 118 2 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 118 3 transcript transcript NNP work_6fmxppcvcrd2xlbjmj2hlbluna 118 4 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 118 5 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 118 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 118 7 second second JJ work_6fmxppcvcrd2xlbjmj2hlbluna 118 8 heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 118 9 variant variant NN work_6fmxppcvcrd2xlbjmj2hlbluna 118 10 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 118 11 identified identify VBN work_6fmxppcvcrd2xlbjmj2hlbluna 118 12 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 118 13 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 118 14 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 118 15 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 118 16 intron intron NNP work_6fmxppcvcrd2xlbjmj2hlbluna 118 17 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 118 18 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 118 19 c.74–67C c.74–67c ADD work_6fmxppcvcrd2xlbjmj2hlbluna 118 20 > > XX work_6fmxppcvcrd2xlbjmj2hlbluna 118 21 A a NN work_6fmxppcvcrd2xlbjmj2hlbluna 118 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 118 23 activating activate VBG work_6fmxppcvcrd2xlbjmj2hlbluna 118 24 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 118 25 cryptic cryptic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 118 26 splice- splice- NN work_6fmxppcvcrd2xlbjmj2hlbluna 118 27 accepting accept VBG work_6fmxppcvcrd2xlbjmj2hlbluna 118 28 site site NN work_6fmxppcvcrd2xlbjmj2hlbluna 118 29 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 118 30 predicted predict VBD work_6fmxppcvcrd2xlbjmj2hlbluna 118 31 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 118 32 lead lead VB work_6fmxppcvcrd2xlbjmj2hlbluna 118 33 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 118 34 intron intron NNP work_6fmxppcvcrd2xlbjmj2hlbluna 118 35 retention retention NN work_6fmxppcvcrd2xlbjmj2hlbluna 118 36 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 119 1 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 119 2 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 119 3 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 119 4 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 119 5 very very RB work_6fmxppcvcrd2xlbjmj2hlbluna 119 6 early early RB work_6fmxppcvcrd2xlbjmj2hlbluna 119 7 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 119 8 stop stop NN work_6fmxppcvcrd2xlbjmj2hlbluna 119 9 codon codon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 119 10 p.(Glu6 p.(Glu6 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 119 11 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 119 12 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 119 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 120 1 Tm1 Tm1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 120 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 120 3 tropomyosin tropomyosin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 120 4 binding binding NN work_6fmxppcvcrd2xlbjmj2hlbluna 120 5 site site NN work_6fmxppcvcrd2xlbjmj2hlbluna 120 6 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 120 7 domain domain NN work_6fmxppcvcrd2xlbjmj2hlbluna 120 8 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 120 9 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 120 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 120 11 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 120 12 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 120 13 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 120 14 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 120 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 121 1 Table table NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 2 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 3 In- In- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 4 house house NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 5 bioinformatics bioinformatic NNS work_6fmxppcvcrd2xlbjmj2hlbluna 121 6 script script NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 7 results result NNS work_6fmxppcvcrd2xlbjmj2hlbluna 121 8 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 9 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 10 CNV CNV NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 11 familial familial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 121 12 segregation segregation NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 13 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 14 Chr Chr NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 15 Start Start NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 16 Stop Stop NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 17 Region Region NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 18 ID ID NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 19 Labels Labels NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 20 I401 I401 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 21 I402 I402 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 22 I403 I403 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 23 19 19 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 24 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 25 648 648 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 26 421 421 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 27 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 28 648 648 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 29 630 630 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 30 42 42 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 31 609 609 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 32 770 770 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 33 TNNT1NM_0 tnnt1nm_0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 34 03 03 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 35 283–11 283–11 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 36 1.08 1.08 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 37 1.00 1.00 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 38 1.15 1.15 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 39 19 19 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 40 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 41 649 649 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 42 279 279 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 43 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 44 649 649 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 45 492 492 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 46 42 42 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 47 609 609 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 48 771 771 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 49 TNNT1NM_0 tnnt1nm_0 NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 50 03 03 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 51 283–10 283–10 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 52 0.91 0.91 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 53 0.90 0.90 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 54 1.09 1.09 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 55 19 19 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 56 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 57 652 652 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 58 201 201 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 59 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 60 652 652 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 61 378 378 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 62 42 42 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 63 609 609 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 64 772 772 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 65 TNNT1NM_0 tnnt1nm_0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 66 03 03 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 67 283–9 283–9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 68 0.00 0.00 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 69 0.46 0.46 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 70 0.63 0.63 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 71 19 19 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 72 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 73 652 652 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 74 504 504 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 75 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 76 652 652 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 77 720 720 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 78 42 42 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 79 609 609 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 80 773 773 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 81 TNNT1NM_0 tnnt1nm_0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 82 03 03 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 83 283–8 283–8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 84 0.00 0.00 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 85 0.53 0.53 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 86 0.60 0.60 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 87 19 19 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 88 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 89 653 653 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 90 175 175 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 91 55 55 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 92 653 653 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 93 338 338 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 94 42 42 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 95 609 609 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 96 774 774 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 97 TNNT1NM_0 tnnt1nm_0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 98 03 03 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 99 283–7 283–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 100 0.96 0.96 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 101 1.06 1.06 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 102 0.86 0.86 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 103 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 121 104 in- in- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 121 105 house house NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 106 bioinformatics bioinformatic VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 121 107 script script NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 108 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 109 CNV CNV NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 110 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 111 showed show VBD work_6fmxppcvcrd2xlbjmj2hlbluna 121 112 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 121 113 ratio ratio NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 114 relative relative JJ work_6fmxppcvcrd2xlbjmj2hlbluna 121 115 coverage coverage NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 116 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 117 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 118 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 119 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 120 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 121 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 122 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 121 123 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 124 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 125 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 126 I401 I401 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 127 sample sample NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 128 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 121 129 patient patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 130 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 131 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 121 132 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 121 133 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 134 agreement agreement NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 135 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 136 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 121 137 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 121 138 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 139 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 121 140 0.53 0.53 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 141 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 121 142 0.46 0.46 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 143 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 121 144 respectively respectively RB work_6fmxppcvcrd2xlbjmj2hlbluna 121 145 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 121 146 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 147 I402 I402 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 148 sample sample NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 149 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 121 150 father father NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 151 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 121 152 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 121 153 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 121 154 0.60 0.60 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 155 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 121 156 0.63 0.63 CD work_6fmxppcvcrd2xlbjmj2hlbluna 121 157 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 121 158 respectively respectively RB work_6fmxppcvcrd2xlbjmj2hlbluna 121 159 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 121 160 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 161 I403 I403 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 121 162 sample sample NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 163 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 121 164 mother mother NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 165 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 121 166 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 121 167 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 168 agreement agreement NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 169 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 170 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 121 171 heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 121 172 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 121 173 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 174 these these DT work_6fmxppcvcrd2xlbjmj2hlbluna 121 175 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 121 176 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 121 177 parents parent NNS work_6fmxppcvcrd2xlbjmj2hlbluna 121 178 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 122 1 CNV CNV NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 122 3 copy copy VB work_6fmxppcvcrd2xlbjmj2hlbluna 122 4 number number NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 5 variation variation NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 6 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 122 7 TNNT1 tnnt1 ADD work_6fmxppcvcrd2xlbjmj2hlbluna 122 8 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 122 9 Troponin Troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 10 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 11 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 12 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 122 14 o o XX work_6fmxppcvcrd2xlbjmj2hlbluna 122 15 n n CC work_6fmxppcvcrd2xlbjmj2hlbluna 122 16 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 17 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 18 ril ril NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 19 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 122 21 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 22 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 23 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 24 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 25 b b NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 26 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 27 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 28 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 29 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 30 st st NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 31 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 122 32 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 33 ro ro CC work_6fmxppcvcrd2xlbjmj2hlbluna 122 34 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 35 cte cte NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 36 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 37 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 38 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 39 co co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 40 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 41 yrig yrig NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 42 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 43 t. t. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 44 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 45 ttp ttp NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 46 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 122 47 //jm //jm . work_6fmxppcvcrd2xlbjmj2hlbluna 122 48 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 49 .b .b . work_6fmxppcvcrd2xlbjmj2hlbluna 122 50 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 51 j.co j.co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 52 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 53 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 122 54 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 55 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 56 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 57 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 58 G g NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 59 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 60 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 61 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 62 t t NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 63 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 122 64 first first RB work_6fmxppcvcrd2xlbjmj2hlbluna 122 65 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 66 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 67 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 68 lish lish NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 69 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 70 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 71 a a NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 72 s s NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 73 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 74 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 75 .1 .1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 76 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 77 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 78 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 79 /jm /jm SYM work_6fmxppcvcrd2xlbjmj2hlbluna 122 80 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 81 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 82 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 83 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 84 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 85 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 86 t-2 t-2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 87 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 88 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 89 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 90 -1 -1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 91 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 92 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 93 7 7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 94 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 95 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 96 o o NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 97 n n NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 98 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 99 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 100 S s NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 101 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 102 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 122 103 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 104 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 105 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 106 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 107 r r NNP work_6fmxppcvcrd2xlbjmj2hlbluna 122 108 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 109 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 110 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 111 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 122 112 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 123 1 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 2 o o NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 3 w w NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 4 n n XX work_6fmxppcvcrd2xlbjmj2hlbluna 123 5 lo lo NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 123 7 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 8 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 9 d d NN work_6fmxppcvcrd2xlbjmj2hlbluna 123 10 fro fro NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 11 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 12 http://jmg.bmj.com/ http://jmg.bmj.com/ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 13 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 123 14 Géraud Géraud NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 15 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 123 17 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 18   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 123 19 al al NNP work_6fmxppcvcrd2xlbjmj2hlbluna 123 20 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 124 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 124 2 Med Med NNP work_6fmxppcvcrd2xlbjmj2hlbluna 124 3 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 124 4 2020;0:1–7 2020;0:1–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 124 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 125 1 doi:10.1136 doi:10.1136 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 125 2 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 125 3 jmedgenet-2019 jmedgenet-2019 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 125 4 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 125 5 106714 106714 CD work_6fmxppcvcrd2xlbjmj2hlbluna 125 6 Diagnostics Diagnostics NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 125 7 origin origin NN work_6fmxppcvcrd2xlbjmj2hlbluna 125 8 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 125 9 consanguineous consanguineous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 125 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 126 1 Their -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 126 2 older old JJR work_6fmxppcvcrd2xlbjmj2hlbluna 126 3 daughter daughter NN work_6fmxppcvcrd2xlbjmj2hlbluna 126 4 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 126 5 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 126 6 good good JJ work_6fmxppcvcrd2xlbjmj2hlbluna 126 7 health health NN work_6fmxppcvcrd2xlbjmj2hlbluna 126 8 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 127 1 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 127 2 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 127 3 presented present VBD work_6fmxppcvcrd2xlbjmj2hlbluna 127 4 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 127 5 neonatal neonatal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 127 6 hypotonia hypotonia NNP work_6fmxppcvcrd2xlbjmj2hlbluna 127 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 127 8 predominantly predominantly RB work_6fmxppcvcrd2xlbjmj2hlbluna 127 9 axial axial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 127 10 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 127 11 notably notably RB work_6fmxppcvcrd2xlbjmj2hlbluna 127 12 facial facial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 127 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 127 14 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 127 15 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 127 16 progressive progressive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 127 17 onset onset NN work_6fmxppcvcrd2xlbjmj2hlbluna 127 18 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 127 19 respiratory respiratory JJ work_6fmxppcvcrd2xlbjmj2hlbluna 127 20 failure failure NN work_6fmxppcvcrd2xlbjmj2hlbluna 127 21 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 127 22 laryngomalacia laryngomalacia NN work_6fmxppcvcrd2xlbjmj2hlbluna 127 23 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 127 24 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 127 25 swallowing swallow VBG work_6fmxppcvcrd2xlbjmj2hlbluna 127 26 disorders disorder NNS work_6fmxppcvcrd2xlbjmj2hlbluna 127 27 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 127 28 nutritional nutritional JJ work_6fmxppcvcrd2xlbjmj2hlbluna 127 29 deficiency deficiency NN work_6fmxppcvcrd2xlbjmj2hlbluna 127 30 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 128 1 Hyporeflexia Hyporeflexia NNP work_6fmxppcvcrd2xlbjmj2hlbluna 128 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 128 3 also also RB work_6fmxppcvcrd2xlbjmj2hlbluna 128 4 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 128 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 129 1 Alert- Alert- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 129 2 ness ness NN work_6fmxppcvcrd2xlbjmj2hlbluna 129 3 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 129 4 social social JJ work_6fmxppcvcrd2xlbjmj2hlbluna 129 5 interactions interaction NNS work_6fmxppcvcrd2xlbjmj2hlbluna 129 6 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 129 7 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 129 8 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 129 9 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 129 10 age age NN work_6fmxppcvcrd2xlbjmj2hlbluna 129 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 130 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 130 2 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 130 3 died die VBD work_6fmxppcvcrd2xlbjmj2hlbluna 130 4 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 130 5 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 130 6 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 130 7 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 130 8 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 130 9 respiratory respiratory JJ work_6fmxppcvcrd2xlbjmj2hlbluna 130 10 infection infection NN work_6fmxppcvcrd2xlbjmj2hlbluna 130 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 131 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 131 2 results result NNS work_6fmxppcvcrd2xlbjmj2hlbluna 131 3 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 131 4 CPK CPK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 131 5 testing testing NN work_6fmxppcvcrd2xlbjmj2hlbluna 131 6 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 131 7 brain brain NN work_6fmxppcvcrd2xlbjmj2hlbluna 131 8 MRI MRI NNP work_6fmxppcvcrd2xlbjmj2hlbluna 131 9 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 131 10 ocular ocular NNP work_6fmxppcvcrd2xlbjmj2hlbluna 131 11 fundus fundus NN work_6fmxppcvcrd2xlbjmj2hlbluna 131 12 examination examination NN work_6fmxppcvcrd2xlbjmj2hlbluna 131 13 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 131 14 echocardiog- echocardiog- NN work_6fmxppcvcrd2xlbjmj2hlbluna 131 15 raphy raphy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 131 16 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 131 17 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 131 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 132 1 Right right JJ work_6fmxppcvcrd2xlbjmj2hlbluna 132 2 diaphragmatic diaphragmatic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 132 3 palsy palsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 132 4 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 132 5 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 132 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 133 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 133 2 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 133 3 biopsy biopsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 133 4 performed perform VBD work_6fmxppcvcrd2xlbjmj2hlbluna 133 5 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 133 6 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 133 7 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 133 8 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 133 9 an an DT work_6fmxppcvcrd2xlbjmj2hlbluna 133 10 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 133 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 133 12 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 133 13 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 133 14 disproportion disproportion NN work_6fmxppcvcrd2xlbjmj2hlbluna 133 15 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 133 16 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 133 17 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 133 18 size size NN work_6fmxppcvcrd2xlbjmj2hlbluna 133 19 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 133 20 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 133 21 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 133 22 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 133 23 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 133 24 consistently consistently RB work_6fmxppcvcrd2xlbjmj2hlbluna 133 25 smaller small JJR work_6fmxppcvcrd2xlbjmj2hlbluna 133 26 than than IN work_6fmxppcvcrd2xlbjmj2hlbluna 133 27 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 133 28 II II NNP work_6fmxppcvcrd2xlbjmj2hlbluna 133 29 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 133 30 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 134 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 134 2 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 134 3 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 134 4 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 134 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 134 6 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 134 7 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 134 8 fibres fibre VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 134 9 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 134 10 visu- visu- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 134 11 alised alise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 134 12 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 134 13 Gomori Gomori NNP work_6fmxppcvcrd2xlbjmj2hlbluna 134 14 trichrome trichrome NN work_6fmxppcvcrd2xlbjmj2hlbluna 134 15 staining staining NN work_6fmxppcvcrd2xlbjmj2hlbluna 134 16 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 134 17 electron electron NN work_6fmxppcvcrd2xlbjmj2hlbluna 134 18 microscopy microscopy JJ work_6fmxppcvcrd2xlbjmj2hlbluna 134 19 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 134 20 showed show VBD work_6fmxppcvcrd2xlbjmj2hlbluna 134 21 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 134 22 homogeneous homogeneous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 134 23 typical typical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 134 24 grid grid NN work_6fmxppcvcrd2xlbjmj2hlbluna 134 25 pattern pattern NN work_6fmxppcvcrd2xlbjmj2hlbluna 134 26 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 135 1 Histoenzymological histoenzymological JJ work_6fmxppcvcrd2xlbjmj2hlbluna 135 2 staining staining NN work_6fmxppcvcrd2xlbjmj2hlbluna 135 3 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 135 4 no no DT work_6fmxppcvcrd2xlbjmj2hlbluna 135 5 endomysial endomysial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 135 6 fibrosis fibrosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 135 7 or or CC work_6fmxppcvcrd2xlbjmj2hlbluna 135 8 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 135 9 grouping grouping NN work_6fmxppcvcrd2xlbjmj2hlbluna 135 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 136 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 136 2 proportion proportion NN work_6fmxppcvcrd2xlbjmj2hlbluna 136 3 between between IN work_6fmxppcvcrd2xlbjmj2hlbluna 136 4 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 136 5 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 136 6 types type NNS work_6fmxppcvcrd2xlbjmj2hlbluna 136 7 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 136 8 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 136 9 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 136 10 figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 136 11 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 136 12 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 136 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 137 1 Sanger Sanger NNP work_6fmxppcvcrd2xlbjmj2hlbluna 137 2 sequencing sequencing NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 3 identified identify VBD work_6fmxppcvcrd2xlbjmj2hlbluna 137 4 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 137 5 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 137 6 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 7 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 8 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 137 9 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 137 10 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 11 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 12 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 137 13 c.16G c.16g FW work_6fmxppcvcrd2xlbjmj2hlbluna 137 14 > > XX work_6fmxppcvcrd2xlbjmj2hlbluna 137 15 T t NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 137 17 p. p. NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 18 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 137 19 Glu6 Glu6 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 137 20 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 137 21 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 137 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 137 23 leading lead VBG work_6fmxppcvcrd2xlbjmj2hlbluna 137 24 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 137 25 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 137 26 stop stop NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 27 codon codon NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 28 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 137 29 both both DT work_6fmxppcvcrd2xlbjmj2hlbluna 137 30 alleles allele NNS work_6fmxppcvcrd2xlbjmj2hlbluna 137 31 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 137 32 figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 137 33 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 137 34 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 137 35 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 138 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 138 2 predicted predict VBN work_6fmxppcvcrd2xlbjmj2hlbluna 138 3 absence absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 138 4 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 138 5 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 138 6 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 138 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 138 8 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 138 9 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 138 10 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 138 11 confirmed confirm VBN work_6fmxppcvcrd2xlbjmj2hlbluna 138 12 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 138 13 western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 138 14 blot blot NN work_6fmxppcvcrd2xlbjmj2hlbluna 138 15 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 138 16 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 138 17 figure figure NNP work_6fmxppcvcrd2xlbjmj2hlbluna 138 18 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 138 19 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 138 20 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 139 1 DISCUSSION DISCUSSION NNP work_6fmxppcvcrd2xlbjmj2hlbluna 139 2 All all DT work_6fmxppcvcrd2xlbjmj2hlbluna 139 3 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 139 4 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 139 5 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 139 6 who who WP work_6fmxppcvcrd2xlbjmj2hlbluna 139 7 present present VBP work_6fmxppcvcrd2xlbjmj2hlbluna 139 8 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 139 9 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 139 10 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 139 11 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 139 12 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 139 13 have have VBP work_6fmxppcvcrd2xlbjmj2hlbluna 139 14 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 139 15 similar similar JJ work_6fmxppcvcrd2xlbjmj2hlbluna 139 16 clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 139 17 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 139 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 140 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 140 2 major major JJ work_6fmxppcvcrd2xlbjmj2hlbluna 140 3 features feature NNS work_6fmxppcvcrd2xlbjmj2hlbluna 140 4 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 140 5 generalised generalise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 140 6 hypotonia hypotonia NNP work_6fmxppcvcrd2xlbjmj2hlbluna 140 7 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 140 8 delayed delay VBN work_6fmxppcvcrd2xlbjmj2hlbluna 140 9 motor motor NN work_6fmxppcvcrd2xlbjmj2hlbluna 140 10 development development NN work_6fmxppcvcrd2xlbjmj2hlbluna 140 11 contrasting contrast VBG work_6fmxppcvcrd2xlbjmj2hlbluna 140 12 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 140 13 conserved conserve VBN work_6fmxppcvcrd2xlbjmj2hlbluna 140 14 fine fine JJ work_6fmxppcvcrd2xlbjmj2hlbluna 140 15 motor motor NN work_6fmxppcvcrd2xlbjmj2hlbluna 140 16 skills skill NNS work_6fmxppcvcrd2xlbjmj2hlbluna 140 17 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 140 18 more more RBR work_6fmxppcvcrd2xlbjmj2hlbluna 140 19 or or CC work_6fmxppcvcrd2xlbjmj2hlbluna 140 20 less less RBR work_6fmxppcvcrd2xlbjmj2hlbluna 140 21 significant significant JJ work_6fmxppcvcrd2xlbjmj2hlbluna 140 22 joint joint JJ work_6fmxppcvcrd2xlbjmj2hlbluna 140 23 retraction retraction NN work_6fmxppcvcrd2xlbjmj2hlbluna 140 24 that that WDT work_6fmxppcvcrd2xlbjmj2hlbluna 140 25 may may MD work_6fmxppcvcrd2xlbjmj2hlbluna 140 26 affect affect VB work_6fmxppcvcrd2xlbjmj2hlbluna 140 27 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 140 28 hips hip NNS work_6fmxppcvcrd2xlbjmj2hlbluna 140 29 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 140 30 knees knee NNS work_6fmxppcvcrd2xlbjmj2hlbluna 140 31 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 140 32 shoulders shoulder NNS work_6fmxppcvcrd2xlbjmj2hlbluna 140 33 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 141 1 Thoracic Thoracic NNP work_6fmxppcvcrd2xlbjmj2hlbluna 141 2 dystrophies dystrophy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 141 3 like like IN work_6fmxppcvcrd2xlbjmj2hlbluna 141 4 progressive progressive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 141 5 pectus pectus NN work_6fmxppcvcrd2xlbjmj2hlbluna 141 6 cari- cari- FW work_6fmxppcvcrd2xlbjmj2hlbluna 141 7 natum natum NNP work_6fmxppcvcrd2xlbjmj2hlbluna 141 8 indicate indicate VBP work_6fmxppcvcrd2xlbjmj2hlbluna 141 9 progressive progressive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 141 10 respiratory respiratory JJ work_6fmxppcvcrd2xlbjmj2hlbluna 141 11 failure failure NN work_6fmxppcvcrd2xlbjmj2hlbluna 141 12 that that WDT work_6fmxppcvcrd2xlbjmj2hlbluna 141 13 requires require VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 141 14 inva- inva- NN work_6fmxppcvcrd2xlbjmj2hlbluna 141 15 sive sive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 141 16 or or CC work_6fmxppcvcrd2xlbjmj2hlbluna 141 17 non- non- RB work_6fmxppcvcrd2xlbjmj2hlbluna 141 18 invasive invasive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 141 19 ventilatory ventilatory NN work_6fmxppcvcrd2xlbjmj2hlbluna 141 20 support support NN work_6fmxppcvcrd2xlbjmj2hlbluna 141 21 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 141 22 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 141 23 reported report VBN work_6fmxppcvcrd2xlbjmj2hlbluna 141 24 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 141 25 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 141 26 Dutch dutch JJ work_6fmxppcvcrd2xlbjmj2hlbluna 141 27 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 141 28 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 141 29 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 141 30 Palestinian palestinian JJ work_6fmxppcvcrd2xlbjmj2hlbluna 141 31 patients.2 patients.2 $ work_6fmxppcvcrd2xlbjmj2hlbluna 141 32 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 141 33 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 141 34 semiology semiology NN work_6fmxppcvcrd2xlbjmj2hlbluna 141 35 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 141 36 our -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 141 37 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 141 38 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 141 39 consistent consistent JJ work_6fmxppcvcrd2xlbjmj2hlbluna 141 40 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 141 41 these these DT work_6fmxppcvcrd2xlbjmj2hlbluna 141 42 reports report NNS work_6fmxppcvcrd2xlbjmj2hlbluna 141 43 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 141 44 summarised summarise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 141 45 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 141 46 table table NN work_6fmxppcvcrd2xlbjmj2hlbluna 141 47 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 141 48 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 142 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 2 presence presence NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 3 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 4 tremor tremor NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 5 noted note VBN work_6fmxppcvcrd2xlbjmj2hlbluna 142 6 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 8 first first JJ work_6fmxppcvcrd2xlbjmj2hlbluna 142 9 month month NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 11 life life NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 12 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 13 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 142 14 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 142 15 has have VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 142 16 been be VBN work_6fmxppcvcrd2xlbjmj2hlbluna 142 17 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 142 18 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 19 all all PDT work_6fmxppcvcrd2xlbjmj2hlbluna 142 20 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 21 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 142 22 reported report VBN work_6fmxppcvcrd2xlbjmj2hlbluna 142 23 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 24 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 25 literature literature NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 26 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 142 27 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 28 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 29 exception exception NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 30 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 31 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 32 Dutch dutch JJ work_6fmxppcvcrd2xlbjmj2hlbluna 142 33 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 142 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 142 35 who who WP work_6fmxppcvcrd2xlbjmj2hlbluna 142 36 presented present VBD work_6fmxppcvcrd2xlbjmj2hlbluna 142 37 either either CC work_6fmxppcvcrd2xlbjmj2hlbluna 142 38 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 39 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 142 40 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 41 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 42 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 43 donor donor NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 44 splice splice NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 45 site site NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 46 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 47 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 142 48 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 142 49 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 50 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 51 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 142 52 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 53 causing cause VBG work_6fmxppcvcrd2xlbjmj2hlbluna 142 54 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 142 55 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 142 56 skipping skipping NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 57 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 58 transcripts transcript NNS work_6fmxppcvcrd2xlbjmj2hlbluna 142 59 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 142 60 or or CC work_6fmxppcvcrd2xlbjmj2hlbluna 142 61 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 62 same same JJ work_6fmxppcvcrd2xlbjmj2hlbluna 142 63 heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 142 64 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 65 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 142 66 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 67 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 142 68 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 142 69 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 142 70 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 142 71 14 14 CD work_6fmxppcvcrd2xlbjmj2hlbluna 142 72 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 143 1 Patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 2 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 143 3 presented present VBD work_6fmxppcvcrd2xlbjmj2hlbluna 143 4 tongue tongue NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 5 fasciculations fasciculation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 143 6 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 7 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 143 8 myogenic myogenic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 143 9 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 143 10 discreetly discreetly RB work_6fmxppcvcrd2xlbjmj2hlbluna 143 11 neurogenic neurogenic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 143 12 electromyography electromyography NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 13 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 143 14 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 15 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 143 16 absence absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 17 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 18 dedi- dedi- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 143 19 cated cat VBD work_6fmxppcvcrd2xlbjmj2hlbluna 143 20 electrophysiological electrophysiological JJ work_6fmxppcvcrd2xlbjmj2hlbluna 143 21 exploration exploration NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 143 23 it -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 143 24 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 143 25 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 143 26 however however RB work_6fmxppcvcrd2xlbjmj2hlbluna 143 27 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 143 28 difficult difficult JJ work_6fmxppcvcrd2xlbjmj2hlbluna 143 29 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 143 30 differentiate differentiate VB work_6fmxppcvcrd2xlbjmj2hlbluna 143 31 between between IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 32 neurogenic neurogenic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 143 33 damage damage NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 34 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 35 already already RB work_6fmxppcvcrd2xlbjmj2hlbluna 143 36 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 143 37 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 38 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 143 39 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 40 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 41 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 143 42 electrophysiologically electrophysiologically RB work_6fmxppcvcrd2xlbjmj2hlbluna 143 43 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 143 44 anap- anap- RB work_6fmxppcvcrd2xlbjmj2hlbluna 143 45 athomopathologically athomopathologically RB work_6fmxppcvcrd2xlbjmj2hlbluna 143 46 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 47 Abdulhaq Abdulhaq NNP work_6fmxppcvcrd2xlbjmj2hlbluna 143 48 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 143 49 al2 al2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 143 50 or or CC work_6fmxppcvcrd2xlbjmj2hlbluna 143 51 tremor tremor NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 52 also also RB work_6fmxppcvcrd2xlbjmj2hlbluna 143 53 related relate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 143 54 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 143 55 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 143 56 pathology pathology NN work_6fmxppcvcrd2xlbjmj2hlbluna 143 57 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 144 1 Kyphoscoliosis Kyphoscoliosis NNP work_6fmxppcvcrd2xlbjmj2hlbluna 144 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 144 3 present present JJ work_6fmxppcvcrd2xlbjmj2hlbluna 144 4 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 5 two two CD work_6fmxppcvcrd2xlbjmj2hlbluna 144 6 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 7 four four CD work_6fmxppcvcrd2xlbjmj2hlbluna 144 8 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 144 9 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 144 10 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 11 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 12 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 144 13 Dutch dutch JJ work_6fmxppcvcrd2xlbjmj2hlbluna 144 14 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 144 15 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 144 16 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 17 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 144 18 Hispanic hispanic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 144 19 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 144 20 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 21 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 144 22 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 144 23 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 144 24 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 25 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 144 26 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 144 27 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 28 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 144 29 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 144 30 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 144 31 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 144 32 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 144 33 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 144 34 Palestinian palestinian JJ work_6fmxppcvcrd2xlbjmj2hlbluna 144 35 families family NNS work_6fmxppcvcrd2xlbjmj2hlbluna 144 36 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 145 1 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 145 2 observation observation NN work_6fmxppcvcrd2xlbjmj2hlbluna 145 3 particularly particularly RB work_6fmxppcvcrd2xlbjmj2hlbluna 145 4 reflects reflect VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 145 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 145 6 major major JJ work_6fmxppcvcrd2xlbjmj2hlbluna 145 7 axial axial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 145 8 hypotonia hypotonia NNP work_6fmxppcvcrd2xlbjmj2hlbluna 145 9 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 145 10 these these DT work_6fmxppcvcrd2xlbjmj2hlbluna 145 11 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 145 12 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 146 1 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 146 2 five five CD work_6fmxppcvcrd2xlbjmj2hlbluna 146 3 Palestinian palestinian JJ work_6fmxppcvcrd2xlbjmj2hlbluna 146 4 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 146 5 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 146 6 foetal foetal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 146 7 hypomobility hypomobility NN work_6fmxppcvcrd2xlbjmj2hlbluna 146 8 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 146 9 spinal spinal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 146 10 stiffness stiffness NN work_6fmxppcvcrd2xlbjmj2hlbluna 146 11 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 146 12 also also RB work_6fmxppcvcrd2xlbjmj2hlbluna 146 13 reported report VBN work_6fmxppcvcrd2xlbjmj2hlbluna 146 14 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 146 15 which which WDT work_6fmxppcvcrd2xlbjmj2hlbluna 146 16 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 146 17 less less RBR work_6fmxppcvcrd2xlbjmj2hlbluna 146 18 observed observed JJ work_6fmxppcvcrd2xlbjmj2hlbluna 146 19 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 146 20 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 146 21 Amish amish JJ work_6fmxppcvcrd2xlbjmj2hlbluna 146 22 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 146 23 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 147 1 An an DT work_6fmxppcvcrd2xlbjmj2hlbluna 147 2 interesting interesting JJ work_6fmxppcvcrd2xlbjmj2hlbluna 147 3 observation observation NN work_6fmxppcvcrd2xlbjmj2hlbluna 147 4 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 147 5 one one CD work_6fmxppcvcrd2xlbjmj2hlbluna 147 6 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 147 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 147 8 Dutch dutch JJ work_6fmxppcvcrd2xlbjmj2hlbluna 147 9 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 147 10 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 147 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 147 12 development development NN work_6fmxppcvcrd2xlbjmj2hlbluna 147 13 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 147 14 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 147 15 diaphragmatic diaphragmatic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 147 16 hernia hernia NN work_6fmxppcvcrd2xlbjmj2hlbluna 147 17 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 147 18 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 147 19 years year NNS work_6fmxppcvcrd2xlbjmj2hlbluna 147 20 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 147 21 life life NN work_6fmxppcvcrd2xlbjmj2hlbluna 147 22 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 148 1 It -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 148 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 148 3 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 148 4 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 148 5 secondary secondary JJ work_6fmxppcvcrd2xlbjmj2hlbluna 148 6 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 148 7 atrophy atrophy NN work_6fmxppcvcrd2xlbjmj2hlbluna 148 8 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 148 9 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 148 10 diaphragm diaphragm NN work_6fmxppcvcrd2xlbjmj2hlbluna 148 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 149 1 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 149 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 149 3 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 149 4 Figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 149 5 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 149 6 Transcript Transcript NNP work_6fmxppcvcrd2xlbjmj2hlbluna 149 7 analyses analysis NNS work_6fmxppcvcrd2xlbjmj2hlbluna 149 8 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 149 9 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 149 10 biopsies biopsy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 149 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 150 1 Visualisation visualisation NN work_6fmxppcvcrd2xlbjmj2hlbluna 150 2 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 150 3 Integrative Integrative NNP work_6fmxppcvcrd2xlbjmj2hlbluna 150 4 Genomics Genomics NNP work_6fmxppcvcrd2xlbjmj2hlbluna 150 5 Viewer Viewer NNP work_6fmxppcvcrd2xlbjmj2hlbluna 150 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 151 1 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 151 2 grey grey NN work_6fmxppcvcrd2xlbjmj2hlbluna 151 3 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 151 4 represented represent VBN work_6fmxppcvcrd2xlbjmj2hlbluna 151 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 151 6 coverage coverage NN work_6fmxppcvcrd2xlbjmj2hlbluna 151 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 151 8 each each DT work_6fmxppcvcrd2xlbjmj2hlbluna 151 9 sequence sequence NN work_6fmxppcvcrd2xlbjmj2hlbluna 151 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 152 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 152 2 red red JJ work_6fmxppcvcrd2xlbjmj2hlbluna 152 3 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 152 4 blue blue JJ work_6fmxppcvcrd2xlbjmj2hlbluna 152 5 crescent crescent NN work_6fmxppcvcrd2xlbjmj2hlbluna 152 6 represent represent VBP work_6fmxppcvcrd2xlbjmj2hlbluna 152 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 152 8 splice splice NN work_6fmxppcvcrd2xlbjmj2hlbluna 152 9 junction junction NN work_6fmxppcvcrd2xlbjmj2hlbluna 152 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 153 1 3.1 3.1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 153 2 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 154 1 Transcript transcript JJ work_6fmxppcvcrd2xlbjmj2hlbluna 154 2 patterns pattern NNS work_6fmxppcvcrd2xlbjmj2hlbluna 154 3 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 154 4 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 154 5 7 7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 154 6 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 154 7 10 10 CD work_6fmxppcvcrd2xlbjmj2hlbluna 154 8 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 154 9 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 154 10 healthy healthy JJ work_6fmxppcvcrd2xlbjmj2hlbluna 154 11 control control NN work_6fmxppcvcrd2xlbjmj2hlbluna 154 12 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 154 13 A a NN work_6fmxppcvcrd2xlbjmj2hlbluna 154 14 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 154 15 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 154 16 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 154 17 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 154 18 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 154 19 B b NN work_6fmxppcvcrd2xlbjmj2hlbluna 154 20 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 154 21 samples sample NNS work_6fmxppcvcrd2xlbjmj2hlbluna 154 22 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 155 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 155 2 complete complete JJ work_6fmxppcvcrd2xlbjmj2hlbluna 155 3 skip skip NNS work_6fmxppcvcrd2xlbjmj2hlbluna 155 4 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 155 5 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 155 6 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 155 7 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 155 8 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 155 9 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 155 10 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 155 11 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 155 12 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 155 13 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 155 14 represented represent VBN work_6fmxppcvcrd2xlbjmj2hlbluna 155 15 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 155 16 compared compare VBN work_6fmxppcvcrd2xlbjmj2hlbluna 155 17 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 155 18 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 155 19 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 155 20 splicing splicing NN work_6fmxppcvcrd2xlbjmj2hlbluna 155 21 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 155 22 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 155 23 7–10 7–10 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 155 24 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 155 25 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 155 26 healthy healthy JJ work_6fmxppcvcrd2xlbjmj2hlbluna 155 27 control control NN work_6fmxppcvcrd2xlbjmj2hlbluna 155 28 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 156 1 3.2.Transcript 3.2.transcript NN work_6fmxppcvcrd2xlbjmj2hlbluna 156 2 patterns pattern NNS work_6fmxppcvcrd2xlbjmj2hlbluna 156 3 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 156 4 exon exon NNP 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transcript NNS work_6fmxppcvcrd2xlbjmj2hlbluna 157 3 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 157 4 identified identify VBN work_6fmxppcvcrd2xlbjmj2hlbluna 157 5 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 157 6 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 157 7 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 8 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 157 9 one one CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 10 normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 157 11 splice splice NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 12 pattern pattern NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 13 between between IN work_6fmxppcvcrd2xlbjmj2hlbluna 157 14 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 15 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 16 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 157 17 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 18 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 157 19 similar similar JJ work_6fmxppcvcrd2xlbjmj2hlbluna 157 20 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 157 21 the the DT 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work_6fmxppcvcrd2xlbjmj2hlbluna 157 41 ril ril NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 42 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 43 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 157 44 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 45 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 46 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 47 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 48 b b NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 49 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 50 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 51 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 52 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 53 st st NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 54 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 157 55 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 56 ro ro CC work_6fmxppcvcrd2xlbjmj2hlbluna 157 57 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 58 cte cte NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 59 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 60 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 61 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 62 co co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 63 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 64 yrig yrig NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 65 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 66 t. t. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 67 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 68 ttp ttp NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 69 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 157 70 //jm //jm . work_6fmxppcvcrd2xlbjmj2hlbluna 157 71 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 72 .b .b . work_6fmxppcvcrd2xlbjmj2hlbluna 157 73 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 74 j.co j.co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 75 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 76 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 157 77 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 78 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 79 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 80 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 81 G g NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 82 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 83 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 84 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 85 t t NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 86 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 157 87 first 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108 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 109 t-2 t-2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 110 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 111 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 112 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 113 -1 -1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 114 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 115 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 116 7 7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 117 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 118 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 119 o o NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 120 n n NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 121 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 122 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 123 S s NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 124 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 125 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 157 126 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 127 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 128 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 129 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 130 r r NNP work_6fmxppcvcrd2xlbjmj2hlbluna 157 131 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 132 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 133 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 134 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 157 135 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 158 1 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 2 o o NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 3 w w NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 4 n n XX work_6fmxppcvcrd2xlbjmj2hlbluna 158 5 lo lo NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 158 7 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 8 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 9 d d NN work_6fmxppcvcrd2xlbjmj2hlbluna 158 10 fro fro NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 11 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 12 http://jmg.bmj.com/ http://jmg.bmj.com/ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 13 5Géraud 5Géraud NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 14 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 15 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 158 16 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 17   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 158 18 al al NNP work_6fmxppcvcrd2xlbjmj2hlbluna 158 19 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 159 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 159 2 Med Med NNP work_6fmxppcvcrd2xlbjmj2hlbluna 159 3 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 159 4 2020;0:1–7 2020;0:1–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 159 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 160 1 doi:10.1136 doi:10.1136 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 160 2 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 160 3 jmedgenet-2019 jmedgenet-2019 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 160 4 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 160 5 106714 106714 CD work_6fmxppcvcrd2xlbjmj2hlbluna 160 6 Diagnostics Diagnostics NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 160 7 only only RB work_6fmxppcvcrd2xlbjmj2hlbluna 160 8 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 160 9 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 160 10 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 160 11 complication complication NN work_6fmxppcvcrd2xlbjmj2hlbluna 160 12 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 161 1 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 161 2 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 161 3 presented present VBD work_6fmxppcvcrd2xlbjmj2hlbluna 161 4 an an DT work_6fmxppcvcrd2xlbjmj2hlbluna 161 5 eleva- eleva- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 161 6 tion tion NN work_6fmxppcvcrd2xlbjmj2hlbluna 161 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 161 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 161 9 right right JJ work_6fmxppcvcrd2xlbjmj2hlbluna 161 10 diaphragmatic diaphragmatic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 161 11 dome dome NN work_6fmxppcvcrd2xlbjmj2hlbluna 161 12 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 161 13 indicating indicate VBG work_6fmxppcvcrd2xlbjmj2hlbluna 161 14 possible possible JJ work_6fmxppcvcrd2xlbjmj2hlbluna 161 15 diaphrag- diaphrag- FW work_6fmxppcvcrd2xlbjmj2hlbluna 161 16 matic matic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 161 17 paralysis paralysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 161 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 162 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 162 2 pathophysiology pathophysiology NN work_6fmxppcvcrd2xlbjmj2hlbluna 162 3 remains remain VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 162 4 unexplained unexplained JJ work_6fmxppcvcrd2xlbjmj2hlbluna 162 5 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 162 6 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 162 7 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 162 8 symptom symptom NN work_6fmxppcvcrd2xlbjmj2hlbluna 162 9 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 162 10 suggestive suggestive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 162 11 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 162 12 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 162 13 spinal spinal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 162 14 muscular muscular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 162 15 atrophy atrophy NN 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absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 163 13 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 163 14 ventilatory ventilatory NN work_6fmxppcvcrd2xlbjmj2hlbluna 163 15 support support NN work_6fmxppcvcrd2xlbjmj2hlbluna 163 16 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 163 17 before before IN work_6fmxppcvcrd2xlbjmj2hlbluna 163 18 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 163 19 years year NNS work_6fmxppcvcrd2xlbjmj2hlbluna 163 20 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 163 21 age age NN work_6fmxppcvcrd2xlbjmj2hlbluna 163 22 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 163 23 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 163 24 Amish amish JJ work_6fmxppcvcrd2xlbjmj2hlbluna 163 25 population4 population4 NN work_6fmxppcvcrd2xlbjmj2hlbluna 163 26 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 163 27 up up IN work_6fmxppcvcrd2xlbjmj2hlbluna 163 28 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 163 29 11 11 CD work_6fmxppcvcrd2xlbjmj2hlbluna 163 30 years year NNS work_6fmxppcvcrd2xlbjmj2hlbluna 163 31 old old JJ work_6fmxppcvcrd2xlbjmj2hlbluna 163 32 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 163 33 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 163 34 Palestinian palestinian JJ work_6fmxppcvcrd2xlbjmj2hlbluna 163 35 population.2 population.2 NN work_6fmxppcvcrd2xlbjmj2hlbluna 163 36 Our -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 163 37 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 163 38 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 163 39 died die VBD work_6fmxppcvcrd2xlbjmj2hlbluna 163 40 early early RB work_6fmxppcvcrd2xlbjmj2hlbluna 163 41 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 163 42 despite despite IN work_6fmxppcvcrd2xlbjmj2hlbluna 163 43 non- non- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 163 44 invasive invasive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 163 45 ventilatory ventilatory NN work_6fmxppcvcrd2xlbjmj2hlbluna 163 46 support support NN work_6fmxppcvcrd2xlbjmj2hlbluna 163 47 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 164 1 Some some DT work_6fmxppcvcrd2xlbjmj2hlbluna 164 2 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 164 3 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 164 4 members member NNS work_6fmxppcvcrd2xlbjmj2hlbluna 164 5 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 164 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 164 7 family family NN work_6fmxppcvcrd2xlbjmj2hlbluna 164 8 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 164 9 Ashkenazi Ashkenazi NNP work_6fmxppcvcrd2xlbjmj2hlbluna 164 10 Jewish jewish JJ work_6fmxppcvcrd2xlbjmj2hlbluna 164 11 origin origin NN work_6fmxppcvcrd2xlbjmj2hlbluna 164 12 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 164 13 found find VBN work_6fmxppcvcrd2xlbjmj2hlbluna 164 14 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 164 15 carry carry VB work_6fmxppcvcrd2xlbjmj2hlbluna 164 16 an an DT work_6fmxppcvcrd2xlbjmj2hlbluna 164 17 autosomal autosomal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 164 18 dominant dominant JJ work_6fmxppcvcrd2xlbjmj2hlbluna 164 19 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 164 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 164 21 giving give VBG work_6fmxppcvcrd2xlbjmj2hlbluna 164 22 rise rise NN work_6fmxppcvcrd2xlbjmj2hlbluna 164 23 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 164 24 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 164 25 less less RBR work_6fmxppcvcrd2xlbjmj2hlbluna 164 26 severe severe JJ work_6fmxppcvcrd2xlbjmj2hlbluna 164 27 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 164 28 that that WDT work_6fmxppcvcrd2xlbjmj2hlbluna 164 29 emerged emerge VBD work_6fmxppcvcrd2xlbjmj2hlbluna 164 30 between between IN work_6fmxppcvcrd2xlbjmj2hlbluna 164 31 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 164 32 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 164 33 10 10 CD work_6fmxppcvcrd2xlbjmj2hlbluna 164 34 years year NNS work_6fmxppcvcrd2xlbjmj2hlbluna 164 35 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 164 36 age age NN work_6fmxppcvcrd2xlbjmj2hlbluna 164 37 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 165 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 165 2 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 165 3 included include VBD work_6fmxppcvcrd2xlbjmj2hlbluna 165 4 hypomimia hypomimia NN work_6fmxppcvcrd2xlbjmj2hlbluna 165 5 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 165 6 slowly slowly RB work_6fmxppcvcrd2xlbjmj2hlbluna 165 7 progressing progress VBG work_6fmxppcvcrd2xlbjmj2hlbluna 165 8 prox- prox- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 165 9 imal imal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 165 10 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 165 11 fatigability fatigability NN work_6fmxppcvcrd2xlbjmj2hlbluna 165 12 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 165 13 which which WDT work_6fmxppcvcrd2xlbjmj2hlbluna 165 14 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 165 15 some some DT work_6fmxppcvcrd2xlbjmj2hlbluna 165 16 cases case NNS work_6fmxppcvcrd2xlbjmj2hlbluna 165 17 progressed progress VBN work_6fmxppcvcrd2xlbjmj2hlbluna 165 18 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 165 19 osteoar- osteoar- XX work_6fmxppcvcrd2xlbjmj2hlbluna 165 20 ticular ticular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 165 21 deformities deformity NNS work_6fmxppcvcrd2xlbjmj2hlbluna 165 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 165 23 such such JJ work_6fmxppcvcrd2xlbjmj2hlbluna 165 24 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 165 25 pectus pectus NN work_6fmxppcvcrd2xlbjmj2hlbluna 165 26 carinatum carinatum NN work_6fmxppcvcrd2xlbjmj2hlbluna 165 27 and/or and/or CC work_6fmxppcvcrd2xlbjmj2hlbluna 165 28 kyphoscoliosis kyphoscoliosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 165 29 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 166 1 Intellectual intellectual JJ work_6fmxppcvcrd2xlbjmj2hlbluna 166 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 166 3 cardiac cardiac JJ work_6fmxppcvcrd2xlbjmj2hlbluna 166 4 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 166 5 respiratory respiratory JJ work_6fmxppcvcrd2xlbjmj2hlbluna 166 6 functions function NNS work_6fmxppcvcrd2xlbjmj2hlbluna 166 7 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 166 8 not not RB work_6fmxppcvcrd2xlbjmj2hlbluna 166 9 impaired impair VBN work_6fmxppcvcrd2xlbjmj2hlbluna 166 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 167 1 Survival survival NN work_6fmxppcvcrd2xlbjmj2hlbluna 167 2 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 167 3 not not RB work_6fmxppcvcrd2xlbjmj2hlbluna 167 4 affected affect VBN work_6fmxppcvcrd2xlbjmj2hlbluna 167 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 168 1 These these DT work_6fmxppcvcrd2xlbjmj2hlbluna 168 2 cases case NNS work_6fmxppcvcrd2xlbjmj2hlbluna 168 3 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 168 4 less less RBR work_6fmxppcvcrd2xlbjmj2hlbluna 168 5 severe severe JJ work_6fmxppcvcrd2xlbjmj2hlbluna 168 6 because because IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 168 9 heterozygosity heterozygosity NN work_6fmxppcvcrd2xlbjmj2hlbluna 168 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 168 12 mutation.11 mutation.11 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 168 13 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 168 14 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 168 15 characterised characterise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 168 16 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 17 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 168 18 presence presence NN work_6fmxppcvcrd2xlbjmj2hlbluna 168 19 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 20 rod- rod- RB work_6fmxppcvcrd2xlbjmj2hlbluna 168 21 shaped shaped JJ work_6fmxppcvcrd2xlbjmj2hlbluna 168 22 inclusions inclusion NNS work_6fmxppcvcrd2xlbjmj2hlbluna 168 23 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 24 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 168 25 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 168 26 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 168 27 fibres.3 fibres.3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 168 28 According accord VBG work_6fmxppcvcrd2xlbjmj2hlbluna 168 29 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 30 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 168 31 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 168 32 biopsies biopsy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 168 33 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 34 our -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 168 35 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 168 36 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 168 37 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 168 38 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 168 39 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 168 40 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 168 41 more more RBR work_6fmxppcvcrd2xlbjmj2hlbluna 168 42 often often RB work_6fmxppcvcrd2xlbjmj2hlbluna 168 43 located locate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 168 44 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 168 45 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 168 46 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 168 47 fibres fibre VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 168 48 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 169 1 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 169 2 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 169 3 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 169 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 169 5 however however RB work_6fmxppcvcrd2xlbjmj2hlbluna 169 6 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 169 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 169 8 distribution distribution NN work_6fmxppcvcrd2xlbjmj2hlbluna 169 9 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 169 10 more more RBR work_6fmxppcvcrd2xlbjmj2hlbluna 169 11 homo- homo- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 169 12 geneous geneous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 169 13 throughout throughout IN work_6fmxppcvcrd2xlbjmj2hlbluna 169 14 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 169 15 cytoplasm cytoplasm NN work_6fmxppcvcrd2xlbjmj2hlbluna 169 16 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 169 17 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 169 18 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 169 19 areas area NNS work_6fmxppcvcrd2xlbjmj2hlbluna 169 20 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 169 21 sarcomeric sarcomeric JJ work_6fmxppcvcrd2xlbjmj2hlbluna 169 22 disorganisation disorganisation NN work_6fmxppcvcrd2xlbjmj2hlbluna 169 23 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 169 24 located locate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 169 25 more more RBR work_6fmxppcvcrd2xlbjmj2hlbluna 169 26 often often RB work_6fmxppcvcrd2xlbjmj2hlbluna 169 27 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 169 28 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 169 29 centre centre NN work_6fmxppcvcrd2xlbjmj2hlbluna 169 30 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 169 31 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 169 32 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 169 33 instead instead RB work_6fmxppcvcrd2xlbjmj2hlbluna 169 34 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 169 35 its -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 169 36 periphery periphery NN work_6fmxppcvcrd2xlbjmj2hlbluna 169 37 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 170 1 These these DT work_6fmxppcvcrd2xlbjmj2hlbluna 170 2 features feature NNS work_6fmxppcvcrd2xlbjmj2hlbluna 170 3 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 170 4 emphasised emphasise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 170 5 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 170 6 Johnston Johnston NNP work_6fmxppcvcrd2xlbjmj2hlbluna 170 7 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 170 8 al.4 al.4 NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 9 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 170 10 addition addition NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 170 12 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 170 13 frequently frequently RB work_6fmxppcvcrd2xlbjmj2hlbluna 170 14 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 170 15 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 170 16 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 170 17 series series NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 18 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 170 19 Abdulhaq Abdulhaq NNP work_6fmxppcvcrd2xlbjmj2hlbluna 170 20 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 170 21 al,2 al,2 ADD work_6fmxppcvcrd2xlbjmj2hlbluna 170 22 our -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 170 23 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 170 24 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 170 25 showed show VBD work_6fmxppcvcrd2xlbjmj2hlbluna 170 26 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 170 27 dispro- dispro- NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 28 portion portion NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 29 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 170 30 fibre fibre NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 31 size size NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 32 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 170 33 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 170 34 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 35 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 170 36 fibres fibre VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 170 37 consistently consistently RB work_6fmxppcvcrd2xlbjmj2hlbluna 170 38 smaller small JJR work_6fmxppcvcrd2xlbjmj2hlbluna 170 39 than than IN work_6fmxppcvcrd2xlbjmj2hlbluna 170 40 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 41 II II NNP work_6fmxppcvcrd2xlbjmj2hlbluna 170 42 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 170 43 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 170 44 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 170 45 early early JJ work_6fmxppcvcrd2xlbjmj2hlbluna 170 46 endomysial endomysial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 170 47 fibrosis fibrosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 170 48 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 171 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 171 2 proportion proportion NN work_6fmxppcvcrd2xlbjmj2hlbluna 171 3 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 171 4 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 171 5 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 171 6 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 171 7 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 171 8 II II NNP work_6fmxppcvcrd2xlbjmj2hlbluna 171 9 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 171 10 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 171 11 preserved preserve VBN work_6fmxppcvcrd2xlbjmj2hlbluna 171 12 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 171 13 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 171 14 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 171 15 previous previous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 171 16 series.2 series.2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 171 17 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 171 18 For for IN work_6fmxppcvcrd2xlbjmj2hlbluna 171 19 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 171 20 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 171 21 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 171 22 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 171 23 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 171 24 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 171 25 not not RB work_6fmxppcvcrd2xlbjmj2hlbluna 171 26 visible visible JJ work_6fmxppcvcrd2xlbjmj2hlbluna 171 27 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 171 28 Gomori Gomori NNP work_6fmxppcvcrd2xlbjmj2hlbluna 171 29 trichrome trichrome NN work_6fmxppcvcrd2xlbjmj2hlbluna 171 30 staining staining NN work_6fmxppcvcrd2xlbjmj2hlbluna 171 31 but but CC work_6fmxppcvcrd2xlbjmj2hlbluna 171 32 only only RB work_6fmxppcvcrd2xlbjmj2hlbluna 171 33 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 171 34 electron electron NN work_6fmxppcvcrd2xlbjmj2hlbluna 171 35 microscopy microscopy JJ work_6fmxppcvcrd2xlbjmj2hlbluna 171 36 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 172 1 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 172 2 should should MD work_6fmxppcvcrd2xlbjmj2hlbluna 172 3 be be VB work_6fmxppcvcrd2xlbjmj2hlbluna 172 4 considered consider VBN work_6fmxppcvcrd2xlbjmj2hlbluna 172 5 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 172 6 relation relation NN work_6fmxppcvcrd2xlbjmj2hlbluna 172 7 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 172 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 172 9 findings finding NNS work_6fmxppcvcrd2xlbjmj2hlbluna 172 10 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 172 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 172 12 series series NN work_6fmxppcvcrd2xlbjmj2hlbluna 172 13 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 172 14 Abdulhaq Abdulhaq NNP work_6fmxppcvcrd2xlbjmj2hlbluna 172 15 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 172 16 al,2 al,2 ADD work_6fmxppcvcrd2xlbjmj2hlbluna 172 17 who who WP work_6fmxppcvcrd2xlbjmj2hlbluna 172 18 reported report VBD work_6fmxppcvcrd2xlbjmj2hlbluna 172 19 that that IN work_6fmxppcvcrd2xlbjmj2hlbluna 172 20 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 172 21 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 172 22 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 172 23 often often RB work_6fmxppcvcrd2xlbjmj2hlbluna 172 24 rare rare JJ work_6fmxppcvcrd2xlbjmj2hlbluna 172 25 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 172 26 difficult difficult JJ work_6fmxppcvcrd2xlbjmj2hlbluna 172 27 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 172 28 detect detect VB work_6fmxppcvcrd2xlbjmj2hlbluna 172 29 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 172 30 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 172 31 no no DT work_6fmxppcvcrd2xlbjmj2hlbluna 172 32 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 172 33 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 172 34 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 172 35 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 172 36 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 172 37 seven seven CD work_6fmxppcvcrd2xlbjmj2hlbluna 172 38 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 172 39 biopsies biopsy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 172 40 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 173 1 It -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 173 2 should should MD work_6fmxppcvcrd2xlbjmj2hlbluna 173 3 be be VB work_6fmxppcvcrd2xlbjmj2hlbluna 173 4 emphasised emphasise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 173 5 that that IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 6 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 7 ultrastructural ultrastructural JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 8 aspect aspect NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 9 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 10 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 11 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 173 12 that that WDT work_6fmxppcvcrd2xlbjmj2hlbluna 173 13 we -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 173 14 observed observe VBD work_6fmxppcvcrd2xlbjmj2hlbluna 173 15 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 173 16 quite quite RB work_6fmxppcvcrd2xlbjmj2hlbluna 173 17 typical typical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 18 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 173 19 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 20 homogeneous homogeneous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 21 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 173 22 electron- electron- FW work_6fmxppcvcrd2xlbjmj2hlbluna 173 23 dense dense NNP work_6fmxppcvcrd2xlbjmj2hlbluna 173 24 Z- Z- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 173 25 disk- disk- XX work_6fmxppcvcrd2xlbjmj2hlbluna 173 26 like like IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 27 lattice lattice NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 28 structures structure NNS work_6fmxppcvcrd2xlbjmj2hlbluna 173 29 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 30 continuity continuity NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 31 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 32 thin thin JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 33 filaments filament NNS work_6fmxppcvcrd2xlbjmj2hlbluna 173 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 173 35 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 36 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 37 all all DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 38 reported report VBN work_6fmxppcvcrd2xlbjmj2hlbluna 173 39 cases case NNS work_6fmxppcvcrd2xlbjmj2hlbluna 173 40 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 41 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 173 42 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 173 43 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 44 alterations alteration NNS work_6fmxppcvcrd2xlbjmj2hlbluna 173 45 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 46 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 47 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 48 gene.2 gene.2 NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 49 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 173 50 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 51 particular particular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 52 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 173 53 no no DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 54 amorphous amorphous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 55 material material NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 56 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 173 57 observed observe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 173 58 within within IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 59 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 60 rod rod NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 61 structure structure NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 62 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 173 63 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 64 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 173 65 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 173 66 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 67 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 173 68 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 173 69 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 70 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 71 LMOD3 lmod3 NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 72 gene.15 gene.15 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 173 73 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 74 pathophysiology pathophysiology NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 75 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 76 NM NM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 173 77 linked link VBN work_6fmxppcvcrd2xlbjmj2hlbluna 173 78 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 79 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 173 80 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 81 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 82 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 83 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 84 is be VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 173 85 not not RB work_6fmxppcvcrd2xlbjmj2hlbluna 173 86 fully fully RB work_6fmxppcvcrd2xlbjmj2hlbluna 173 87 understood understand VBN work_6fmxppcvcrd2xlbjmj2hlbluna 173 88 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 173 89 but but CC work_6fmxppcvcrd2xlbjmj2hlbluna 173 90 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 91 absence absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 92 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 93 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 94 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 173 95 leads lead VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 173 96 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 173 97 size size VB work_6fmxppcvcrd2xlbjmj2hlbluna 173 98 defect defect NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 99 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 100 both both CC work_6fmxppcvcrd2xlbjmj2hlbluna 173 101 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 102 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 173 103 fast fast JJ work_6fmxppcvcrd2xlbjmj2hlbluna 173 104 fibres,16 fibres,16 NNS work_6fmxppcvcrd2xlbjmj2hlbluna 173 105 which which WDT work_6fmxppcvcrd2xlbjmj2hlbluna 173 106 may may MD work_6fmxppcvcrd2xlbjmj2hlbluna 173 107 be be VB work_6fmxppcvcrd2xlbjmj2hlbluna 173 108 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 109 cornerstone cornerstone NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 110 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 173 111 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 173 112 disease disease NN work_6fmxppcvcrd2xlbjmj2hlbluna 173 113 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 174 1 Functional functional JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 2 studies study NNS work_6fmxppcvcrd2xlbjmj2hlbluna 174 3 performed perform VBN work_6fmxppcvcrd2xlbjmj2hlbluna 174 4 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 5 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 6 cases case NNS work_6fmxppcvcrd2xlbjmj2hlbluna 174 7 due due JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 8 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 174 9 TNNT1 tnnt1 VB work_6fmxppcvcrd2xlbjmj2hlbluna 174 10 truncating truncating JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 11 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 174 12 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 13 Ser108 ser108 CD work_6fmxppcvcrd2xlbjmj2hlbluna 174 14 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 174 15 Leu203 leu203 CD work_6fmxppcvcrd2xlbjmj2hlbluna 174 16 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 174 17 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 18 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 19 RNA RNA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 20 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 21 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 174 22 internal internal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 23 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 24 revealed reveal VBD work_6fmxppcvcrd2xlbjmj2hlbluna 174 25 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 26 unique unique JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 27 impact impact NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 28 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 29 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 30 Tm- Tm- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 31 binding bind VBG work_6fmxppcvcrd2xlbjmj2hlbluna 174 32 affinity affinity NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 33 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 34 TNT.17 TNT.17 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 35 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 36 patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 37 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 174 38 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 174 39 deleted delete VBN work_6fmxppcvcrd2xlbjmj2hlbluna 174 40 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 41 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 174 42 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 174 43 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 174 44 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 174 45 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 174 46 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 47 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 48 deleted delete VBN work_6fmxppcvcrd2xlbjmj2hlbluna 174 49 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 50 transcripts transcript NNS work_6fmxppcvcrd2xlbjmj2hlbluna 174 51 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 174 52 detected detect VBN work_6fmxppcvcrd2xlbjmj2hlbluna 174 53 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 174 54 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 55 absence absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 56 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 57 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 58 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 59 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 60 western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 61 blotting blotting NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 62 suggests suggest VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 174 63 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 64 mechanism mechanism NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 65 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 66 post- post- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 67 translational translational JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 68 degradation degradation NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 69 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 70 TNT TNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 71 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 174 72 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 73 previously previously RB work_6fmxppcvcrd2xlbjmj2hlbluna 174 74 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 174 75 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 76 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 77 Glu180 glu180 CD work_6fmxppcvcrd2xlbjmj2hlbluna 174 78 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 79 mutation.18 mutation.18 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 80 19 19 CD work_6fmxppcvcrd2xlbjmj2hlbluna 174 81 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 82 degradation degradation NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 83 could could MD work_6fmxppcvcrd2xlbjmj2hlbluna 174 84 be be VB work_6fmxppcvcrd2xlbjmj2hlbluna 174 85 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 86 consequence consequence NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 87 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 88 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 174 89 complete complete JJ work_6fmxppcvcrd2xlbjmj2hlbluna 174 90 lack lack NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 91 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 92 interaction interaction NN work_6fmxppcvcrd2xlbjmj2hlbluna 174 93 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 174 94 Tm Tm NNP work_6fmxppcvcrd2xlbjmj2hlbluna 174 95 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 175 1 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 175 2 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 175 3 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 175 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 175 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 175 6 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 175 7 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 175 8 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 175 9 Glu112 glu112 CD work_6fmxppcvcrd2xlbjmj2hlbluna 175 10 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 175 11 exon exon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 175 12 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 175 13 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 175 14 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 175 15 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 175 16 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 175 17 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 175 18 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 175 19 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 175 20 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 175 21 other other JJ work_6fmxppcvcrd2xlbjmj2hlbluna 175 22 allele allele NNP work_6fmxppcvcrd2xlbjmj2hlbluna 175 23 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 175 24 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 175 25 partial partial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 175 26 intron intron NN work_6fmxppcvcrd2xlbjmj2hlbluna 175 27 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 175 28 retention retention NN work_6fmxppcvcrd2xlbjmj2hlbluna 175 29 disrupting disrupt VBG work_6fmxppcvcrd2xlbjmj2hlbluna 175 30 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 175 31 open open JJ work_6fmxppcvcrd2xlbjmj2hlbluna 175 32 reading reading NN work_6fmxppcvcrd2xlbjmj2hlbluna 175 33 frame frame NN work_6fmxppcvcrd2xlbjmj2hlbluna 175 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 175 35 resulted result VBD work_6fmxppcvcrd2xlbjmj2hlbluna 175 36 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 175 37 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 175 38 total total JJ work_6fmxppcvcrd2xlbjmj2hlbluna 175 39 absence absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 175 40 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 175 41 TNT1 TNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 175 42 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 176 1 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 176 2 patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 176 3 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 176 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 176 5 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 176 6 homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 176 7 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 8 induced induce VBD work_6fmxppcvcrd2xlbjmj2hlbluna 176 9 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 176 10 very very RB work_6fmxppcvcrd2xlbjmj2hlbluna 176 11 early early JJ work_6fmxppcvcrd2xlbjmj2hlbluna 176 12 stop stop NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 13 codon codon NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 14 at at IN work_6fmxppcvcrd2xlbjmj2hlbluna 176 15 Glu6 Glu6 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 176 16 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 176 17 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 176 18 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 19 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 176 20 consequently consequently RB work_6fmxppcvcrd2xlbjmj2hlbluna 176 21 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 176 22 absence absence NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 23 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 176 24 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 25 synthesis synthesis NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 26 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 176 27 as as IN work_6fmxppcvcrd2xlbjmj2hlbluna 176 28 confirmed confirm VBN work_6fmxppcvcrd2xlbjmj2hlbluna 176 29 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 176 30 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 176 31 western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 176 32 blot blot NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 33 study study NN work_6fmxppcvcrd2xlbjmj2hlbluna 176 34 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 177 1 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 177 2 conclusion conclusion NN work_6fmxppcvcrd2xlbjmj2hlbluna 177 3 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 177 4 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 177 5 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 177 6 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 177 7 reported report VBN work_6fmxppcvcrd2xlbjmj2hlbluna 177 8 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 177 9 this this DT work_6fmxppcvcrd2xlbjmj2hlbluna 177 10 series series NN work_6fmxppcvcrd2xlbjmj2hlbluna 177 11 reinforce reinforce VBP work_6fmxppcvcrd2xlbjmj2hlbluna 177 12 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 177 13 homogeneous homogeneous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 177 14 character character NN work_6fmxppcvcrd2xlbjmj2hlbluna 177 15 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 177 16 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 177 17 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 177 18 associated associate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 177 19 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 177 20 reces- reces- VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 177 21 sive sive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 177 22 forms form NNS work_6fmxppcvcrd2xlbjmj2hlbluna 177 23 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 177 24 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 177 25 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 177 26 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 178 1 In in IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 2 addition addition NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 3 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 4 functional functional JJ work_6fmxppcvcrd2xlbjmj2hlbluna 178 5 studies study NNS work_6fmxppcvcrd2xlbjmj2hlbluna 178 6 show show VBP work_6fmxppcvcrd2xlbjmj2hlbluna 178 7 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 178 8 complete complete JJ work_6fmxppcvcrd2xlbjmj2hlbluna 178 9 loss loss NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 11 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 12 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 13 all all DT work_6fmxppcvcrd2xlbjmj2hlbluna 178 14 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 178 15 cases case NNS work_6fmxppcvcrd2xlbjmj2hlbluna 178 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 17 consistent consistent JJ work_6fmxppcvcrd2xlbjmj2hlbluna 178 18 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 19 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 178 20 recent recent JJ work_6fmxppcvcrd2xlbjmj2hlbluna 178 21 results result NNS work_6fmxppcvcrd2xlbjmj2hlbluna 178 22 obtained obtain VBN work_6fmxppcvcrd2xlbjmj2hlbluna 178 23 on on IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 24 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 25 knockout knockout NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 26 mice.20 mice.20 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 27 Author Author NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 28 affiliations affiliation VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 178 29 1Neuropediatric 1Neuropediatric NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 30 Department Department NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 31 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 32 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 33 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 34 Centre Centre NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 35 Toulouse Toulouse NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 36 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 37 Toulouse Toulouse NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 38 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 39 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 40 2INSERM 2INSERM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 41 U1216 U1216 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 42 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 43 Grenoble Grenoble NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 44 Alpes Alpes NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 178 45 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 46 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 47 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 48 Grenoble Grenoble NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 49 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 50 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 51 3INSERM 3INSERM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 52 U1037 U1037 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 53 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 54 Cancer Cancer NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 55 Research Research NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 56 Center Center NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 57 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 58 Toulouse Toulouse NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 59 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 178 60 CRCT CRCT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 61 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 178 62 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 63 Department Department NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 64 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 65 Pathology Pathology NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 66 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 67 Toulouse Toulouse NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 68 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 69 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 70 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 71 Toulouse Toulouse NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 72 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 73 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 74 4INSERM 4INSERM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 75 U1216 U1216 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 76 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 77 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 78 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 79 Grenoble Grenoble NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 80 Alpes Alpes NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 81 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 82 Grenoble Grenoble NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 83 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 84 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 85 5Maternity 5Maternity NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 86 Department Department NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 87 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 88 Brest Brest NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 89 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 90 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 91 Center Center NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 92 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 93 Brest Brest NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 94 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 95 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 96 6Pathology 6Pathology NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 97 Department Department NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 98 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 99 Brest Brest NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 100 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 101 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 102 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 103 Morvan Morvan NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 104 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 105 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 106 Brest Brest NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 107 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 108 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 109 7Neuropediatric 7Neuropediatric NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 110 Department Department NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 111 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 112 Garches Garches NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 113 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 114 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 115 Center Center NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 116 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 117 Garches Garches NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 118 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 119 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 120 8UMRS974 8umrs974 NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 121 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 122 CNRS CNRS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 123 FRE3617 FRE3617 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 124 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 125 Center Center NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 126 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 127 Research Research NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 128 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 129 Myology Myology NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 130 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 131 INSERM INSERM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 132 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 133 CNRS CNRS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 134 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 135 Sorbonne Sorbonne NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 136 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 137 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 138 UPMC UPMC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 139 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 140 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 141 Paris Paris NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 142 06 06 CD work_6fmxppcvcrd2xlbjmj2hlbluna 178 143 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 144 Paris Paris NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 145 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 146 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 147 9Myology 9Myology NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 148 Institute Institute NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 149 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 150 Assistance Assistance NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 151 Publique- Publique- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 152 Hôpitaux Hôpitaux NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 153 de de IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 154 Paris Paris NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 155 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 156 Pitié Pitié NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 157 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 178 158 Salpêtrière Salpêtrière NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 159 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 160 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 161 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 162 Paris Paris NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 163 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 164 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 165 10Molecular 10Molecular NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 166 Genetics Genetics NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 167 Laboratory Laboratory NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 168 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 169 LGMR LGMR NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 170 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 171 Montpellier Montpellier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 172 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 173 Hospital Hospital NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 174 Centre Centre NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 175 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 176 University University NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 177 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 178 Montpellier Montpellier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 179 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 180 Montpellier Montpellier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 181 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 182 France France NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 183 Contributors Contributors NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 184 JG JG NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 185 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 186 KD KD NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 187 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 188 JR JR NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 189 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 190 MC MC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 191 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 178 192 CC CC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 178 193 contributed contribute VBD work_6fmxppcvcrd2xlbjmj2hlbluna 178 194 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 178 195 medical medical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 178 196 evidence evidence NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 197 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 198 data datum NNS work_6fmxppcvcrd2xlbjmj2hlbluna 178 199 collection collection NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 200 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 178 201 article article NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 202 writing writing NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 203 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 178 204 reading reading NN work_6fmxppcvcrd2xlbjmj2hlbluna 178 205 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 179 1 EUC EUC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 179 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 179 3 NBR NBR NNP work_6fmxppcvcrd2xlbjmj2hlbluna 179 4 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 179 5 AS AS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 179 6 contributed contribute VBD work_6fmxppcvcrd2xlbjmj2hlbluna 179 7 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 179 8 medical medical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 179 9 evidence evidence NN work_6fmxppcvcrd2xlbjmj2hlbluna 179 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 179 11 article article NN work_6fmxppcvcrd2xlbjmj2hlbluna 179 12 writing writing NN work_6fmxppcvcrd2xlbjmj2hlbluna 179 13 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 179 14 reading reading NN work_6fmxppcvcrd2xlbjmj2hlbluna 179 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 180 1 PM pm NN work_6fmxppcvcrd2xlbjmj2hlbluna 180 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 180 3 A- a- XX work_6fmxppcvcrd2xlbjmj2hlbluna 180 4 CC cc NN work_6fmxppcvcrd2xlbjmj2hlbluna 180 5 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 180 6 MK MK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 180 7 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 180 8 RJM RJM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 180 9 contributed contribute VBD work_6fmxppcvcrd2xlbjmj2hlbluna 180 10 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 180 11 article article NN work_6fmxppcvcrd2xlbjmj2hlbluna 180 12 writing writing NN work_6fmxppcvcrd2xlbjmj2hlbluna 180 13 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 180 14 reading reading NN work_6fmxppcvcrd2xlbjmj2hlbluna 180 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 181 1 MD MD NNP work_6fmxppcvcrd2xlbjmj2hlbluna 181 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 181 3 EB EB NNP work_6fmxppcvcrd2xlbjmj2hlbluna 181 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 181 5 CI CI NNP work_6fmxppcvcrd2xlbjmj2hlbluna 181 6 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 181 7 JB JB NNP work_6fmxppcvcrd2xlbjmj2hlbluna 181 8 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 181 9 JF JF NNP work_6fmxppcvcrd2xlbjmj2hlbluna 181 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 181 11 EL el NN work_6fmxppcvcrd2xlbjmj2hlbluna 181 12 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 181 13 AM am NN work_6fmxppcvcrd2xlbjmj2hlbluna 181 14 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 181 15 HP HP NNP work_6fmxppcvcrd2xlbjmj2hlbluna 181 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 181 17 IM IM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 181 18 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 181 19 CT CT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 181 20 contributed contribute VBD work_6fmxppcvcrd2xlbjmj2hlbluna 181 21 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 181 22 data datum NNS work_6fmxppcvcrd2xlbjmj2hlbluna 181 23 collection collection NN work_6fmxppcvcrd2xlbjmj2hlbluna 181 24 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 181 25 scientific scientific JJ work_6fmxppcvcrd2xlbjmj2hlbluna 181 26 expertise expertise NN work_6fmxppcvcrd2xlbjmj2hlbluna 181 27 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 182 1 Funding fund VBG work_6fmxppcvcrd2xlbjmj2hlbluna 182 2 This this DT work_6fmxppcvcrd2xlbjmj2hlbluna 182 3 work work NN work_6fmxppcvcrd2xlbjmj2hlbluna 182 4 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 182 5 supported support VBN work_6fmxppcvcrd2xlbjmj2hlbluna 182 6 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 182 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 182 8 AT3C AT3C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 182 9 Association Association NNP work_6fmxppcvcrd2xlbjmj2hlbluna 182 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 183 1 We -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 183 2 are be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 183 3 indebted indebted JJ work_6fmxppcvcrd2xlbjmj2hlbluna 183 4 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 183 5 Pr Pr NNP work_6fmxppcvcrd2xlbjmj2hlbluna 183 6 Jian- Jian- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 183 7 Ping Ping NNP work_6fmxppcvcrd2xlbjmj2hlbluna 183 8 Jin Jin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 183 9 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 183 10 providing provide VBG work_6fmxppcvcrd2xlbjmj2hlbluna 183 11 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 183 12 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 183 13 muscle- muscle- NN work_6fmxppcvcrd2xlbjmj2hlbluna 183 14 specific specific JJ work_6fmxppcvcrd2xlbjmj2hlbluna 183 15 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 183 16 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 183 17 antibody antibody NN work_6fmxppcvcrd2xlbjmj2hlbluna 183 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 184 1 Competing compete VBG work_6fmxppcvcrd2xlbjmj2hlbluna 184 2 interests interest NNS work_6fmxppcvcrd2xlbjmj2hlbluna 184 3 None none NN work_6fmxppcvcrd2xlbjmj2hlbluna 184 4 declared declare VBD work_6fmxppcvcrd2xlbjmj2hlbluna 184 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 185 1 Patient patient JJ work_6fmxppcvcrd2xlbjmj2hlbluna 185 2 consent consent NN work_6fmxppcvcrd2xlbjmj2hlbluna 185 3 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 185 4 publication publication NN work_6fmxppcvcrd2xlbjmj2hlbluna 185 5 Not not RB work_6fmxppcvcrd2xlbjmj2hlbluna 185 6 required require VBN work_6fmxppcvcrd2xlbjmj2hlbluna 185 7 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 186 1 Ethics ethic NNS work_6fmxppcvcrd2xlbjmj2hlbluna 186 2 approval approval NN work_6fmxppcvcrd2xlbjmj2hlbluna 186 3 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 186 4 study study NN work_6fmxppcvcrd2xlbjmj2hlbluna 186 5 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 186 6 approved approve VBN work_6fmxppcvcrd2xlbjmj2hlbluna 186 7 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 186 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 186 9 ethical ethical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 186 10 guidelines guideline NNS work_6fmxppcvcrd2xlbjmj2hlbluna 186 11 issued issue VBN work_6fmxppcvcrd2xlbjmj2hlbluna 186 12 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 186 13 our -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 186 14 institutions institution NNS work_6fmxppcvcrd2xlbjmj2hlbluna 186 15 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 186 16 clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 186 17 studies study NNS work_6fmxppcvcrd2xlbjmj2hlbluna 186 18 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 186 19 compliance compliance NN work_6fmxppcvcrd2xlbjmj2hlbluna 186 20 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 186 21 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 186 22 Helsinki Helsinki NNP work_6fmxppcvcrd2xlbjmj2hlbluna 186 23 Declaration Declaration NNP work_6fmxppcvcrd2xlbjmj2hlbluna 186 24 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 186 25 MR004 MR004 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 186 26 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 186 27 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 186 28 206 206 CD work_6fmxppcvcrd2xlbjmj2hlbluna 186 29 723 723 CD work_6fmxppcvcrd2xlbjmj2hlbluna 186 30 v v NN work_6fmxppcvcrd2xlbjmj2hlbluna 186 31 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 186 32 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 186 33 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 187 1 Provenance provenance NN work_6fmxppcvcrd2xlbjmj2hlbluna 187 2 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 187 3 peer peer NN work_6fmxppcvcrd2xlbjmj2hlbluna 187 4 review review NN work_6fmxppcvcrd2xlbjmj2hlbluna 187 5 Not not RB work_6fmxppcvcrd2xlbjmj2hlbluna 187 6 commissioned commission VBN work_6fmxppcvcrd2xlbjmj2hlbluna 187 7 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 187 8 externally externally RB work_6fmxppcvcrd2xlbjmj2hlbluna 187 9 peer peer NN work_6fmxppcvcrd2xlbjmj2hlbluna 187 10 reviewed review VBD work_6fmxppcvcrd2xlbjmj2hlbluna 187 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 188 1 Figure figure NN work_6fmxppcvcrd2xlbjmj2hlbluna 188 2 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 188 3 Western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 188 4 blot blot NN work_6fmxppcvcrd2xlbjmj2hlbluna 188 5 analysis analysis NN work_6fmxppcvcrd2xlbjmj2hlbluna 188 6 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 188 7 sTNT stnt NN work_6fmxppcvcrd2xlbjmj2hlbluna 188 8 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 189 1 Muscular muscular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 189 2 biopsy biopsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 189 3 homogenates homogenate NNS work_6fmxppcvcrd2xlbjmj2hlbluna 189 4 were be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 189 5 realised realise VBN work_6fmxppcvcrd2xlbjmj2hlbluna 189 6 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 189 7 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 189 8 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 189 9 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 189 10 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 189 11 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 189 12 1–3 1–3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 189 13 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 189 14 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 189 15 an an DT work_6fmxppcvcrd2xlbjmj2hlbluna 189 16 age age NN work_6fmxppcvcrd2xlbjmj2hlbluna 189 17 relative relative JJ work_6fmxppcvcrd2xlbjmj2hlbluna 189 18 control control NN work_6fmxppcvcrd2xlbjmj2hlbluna 189 19 biopsy biopsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 189 20 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 189 21 CTRL CTRL NNP work_6fmxppcvcrd2xlbjmj2hlbluna 189 22 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 189 23 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 190 1 An an DT work_6fmxppcvcrd2xlbjmj2hlbluna 190 2 antitubulin antitubulin NN work_6fmxppcvcrd2xlbjmj2hlbluna 190 3 antibody antibody NN work_6fmxppcvcrd2xlbjmj2hlbluna 190 4 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 190 5 used use VBN work_6fmxppcvcrd2xlbjmj2hlbluna 190 6 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 190 7 control control VB work_6fmxppcvcrd2xlbjmj2hlbluna 190 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 190 9 protein protein NN work_6fmxppcvcrd2xlbjmj2hlbluna 190 10 amount amount NN work_6fmxppcvcrd2xlbjmj2hlbluna 190 11 loading loading NN work_6fmxppcvcrd2xlbjmj2hlbluna 190 12 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 191 1 An an DT work_6fmxppcvcrd2xlbjmj2hlbluna 191 2 anti anti JJ work_6fmxppcvcrd2xlbjmj2hlbluna 191 3 sTNT stnt NN work_6fmxppcvcrd2xlbjmj2hlbluna 191 4 was be VBD work_6fmxppcvcrd2xlbjmj2hlbluna 191 5 used use VBN work_6fmxppcvcrd2xlbjmj2hlbluna 191 6 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 191 7 evaluate evaluate VB work_6fmxppcvcrd2xlbjmj2hlbluna 191 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 191 9 quantity quantity NN work_6fmxppcvcrd2xlbjmj2hlbluna 191 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 191 11 sTNT stnt NN work_6fmxppcvcrd2xlbjmj2hlbluna 191 12 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 192 1 Compared compare VBN work_6fmxppcvcrd2xlbjmj2hlbluna 192 2 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 192 3 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 192 4 control control NN work_6fmxppcvcrd2xlbjmj2hlbluna 192 5 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 192 6 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 192 7 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 192 8 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 192 9 have have VBP work_6fmxppcvcrd2xlbjmj2hlbluna 192 10 nearly nearly RB work_6fmxppcvcrd2xlbjmj2hlbluna 192 11 null null JJ work_6fmxppcvcrd2xlbjmj2hlbluna 192 12 expression expression NN work_6fmxppcvcrd2xlbjmj2hlbluna 192 13 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 192 14 sTNT stnt NN work_6fmxppcvcrd2xlbjmj2hlbluna 192 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 193 1 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 193 2 very very RB work_6fmxppcvcrd2xlbjmj2hlbluna 193 3 faint faint JJ work_6fmxppcvcrd2xlbjmj2hlbluna 193 4 bands band NNS work_6fmxppcvcrd2xlbjmj2hlbluna 193 5 detected detect VBN work_6fmxppcvcrd2xlbjmj2hlbluna 193 6 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 193 7 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 193 8 ’ ’ POS work_6fmxppcvcrd2xlbjmj2hlbluna 193 9 biopsy biopsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 193 10 most most RBS work_6fmxppcvcrd2xlbjmj2hlbluna 193 11 probably probably RB work_6fmxppcvcrd2xlbjmj2hlbluna 193 12 correspond correspond VBP work_6fmxppcvcrd2xlbjmj2hlbluna 193 13 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 193 14 non- non- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 193 15 specific specific JJ work_6fmxppcvcrd2xlbjmj2hlbluna 193 16 reactivity reactivity NN work_6fmxppcvcrd2xlbjmj2hlbluna 193 17 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 193 18 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 193 19 antibodies antibody NNS work_6fmxppcvcrd2xlbjmj2hlbluna 193 20 but but CC work_6fmxppcvcrd2xlbjmj2hlbluna 193 21 could could MD work_6fmxppcvcrd2xlbjmj2hlbluna 193 22 also also RB work_6fmxppcvcrd2xlbjmj2hlbluna 193 23 reflect reflect VB work_6fmxppcvcrd2xlbjmj2hlbluna 193 24 cross- cross- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 193 25 reactivity reactivity NN work_6fmxppcvcrd2xlbjmj2hlbluna 193 26 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 193 27 other other JJ work_6fmxppcvcrd2xlbjmj2hlbluna 193 28 TNNT tnnt JJ work_6fmxppcvcrd2xlbjmj2hlbluna 193 29 isoforms isoform NNS work_6fmxppcvcrd2xlbjmj2hlbluna 193 30 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 194 1 They -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 194 2 represent represent VBP work_6fmxppcvcrd2xlbjmj2hlbluna 194 3 less less JJR work_6fmxppcvcrd2xlbjmj2hlbluna 194 4 than than IN work_6fmxppcvcrd2xlbjmj2hlbluna 194 5 0.5 0.5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 194 6 % % NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 194 8 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 194 9 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 10 amount amount NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 11 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 194 12 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 194 13 control control NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 14 biopsy biopsy NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 15 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 194 16 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 194 17 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 194 18 tubulin tubulin NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 19 amount amount NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 20 fixed fix VBN work_6fmxppcvcrd2xlbjmj2hlbluna 194 21 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 194 22 100 100 CD work_6fmxppcvcrd2xlbjmj2hlbluna 194 23 % % NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 24 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 194 25 control control NN work_6fmxppcvcrd2xlbjmj2hlbluna 194 26 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 194 27 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 195 1 sTNT sTNT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 195 3 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 195 4 muscle- muscle- NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 5 specific specific JJ work_6fmxppcvcrd2xlbjmj2hlbluna 195 6 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 7 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 8 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 195 9 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 195 11 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 12 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 13 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 14 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 195 16 o o XX work_6fmxppcvcrd2xlbjmj2hlbluna 195 17 n n CC work_6fmxppcvcrd2xlbjmj2hlbluna 195 18 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 19 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 20 ril ril NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 21 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 195 23 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 24 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 25 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 26 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 27 b b NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 28 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 29 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 30 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 31 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 32 st st NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 33 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 195 34 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 35 ro ro CC work_6fmxppcvcrd2xlbjmj2hlbluna 195 36 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 37 cte cte NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 38 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 39 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 40 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 41 co co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 42 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 43 yrig yrig NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 44 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 45 t. t. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 46 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 47 ttp ttp NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 48 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 195 49 //jm //jm . work_6fmxppcvcrd2xlbjmj2hlbluna 195 50 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 51 .b .b . work_6fmxppcvcrd2xlbjmj2hlbluna 195 52 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 53 j.co j.co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 54 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 55 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 195 56 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 57 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 58 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 59 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 60 G g NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 61 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 62 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 63 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 64 t t NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 65 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 195 66 first 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NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 88 t-2 t-2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 89 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 90 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 91 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 92 -1 -1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 93 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 94 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 95 7 7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 96 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 97 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 98 o o NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 99 n n NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 100 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 101 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 195 102 S s NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 103 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 104 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 195 105 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 106 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 107 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 195 108 e e NNP 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NNP work_6fmxppcvcrd2xlbjmj2hlbluna 203 1 ORCID ORCID NNP work_6fmxppcvcrd2xlbjmj2hlbluna 203 2 iDs iDs NNP work_6fmxppcvcrd2xlbjmj2hlbluna 203 3 John John NNP work_6fmxppcvcrd2xlbjmj2hlbluna 203 4   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 203 5 Rendu Rendu NNP work_6fmxppcvcrd2xlbjmj2hlbluna 203 6 http:// http:// NNP work_6fmxppcvcrd2xlbjmj2hlbluna 203 7 orcid orcid JJ work_6fmxppcvcrd2xlbjmj2hlbluna 203 8 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 204 1 org/ org/ VB work_6fmxppcvcrd2xlbjmj2hlbluna 204 2 0000- 0000- CD work_6fmxppcvcrd2xlbjmj2hlbluna 204 3 0002- 0002- CD work_6fmxppcvcrd2xlbjmj2hlbluna 204 4 0377- 0377- CD work_6fmxppcvcrd2xlbjmj2hlbluna 204 5 0807 0807 CD work_6fmxppcvcrd2xlbjmj2hlbluna 204 6 Anne- Anne- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 204 7 Cécile Cécile NNP work_6fmxppcvcrd2xlbjmj2hlbluna 204 8   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 204 9 Coville Coville NNP work_6fmxppcvcrd2xlbjmj2hlbluna 204 10 http:// http:// NN work_6fmxppcvcrd2xlbjmj2hlbluna 204 11 orcid orcid VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 204 12 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 205 1 org/ org/ VB work_6fmxppcvcrd2xlbjmj2hlbluna 205 2 0000- 0000- CD work_6fmxppcvcrd2xlbjmj2hlbluna 205 3 0001- 0001- CD work_6fmxppcvcrd2xlbjmj2hlbluna 205 4 5508- 5508- CD work_6fmxppcvcrd2xlbjmj2hlbluna 205 5 1678 1678 CD work_6fmxppcvcrd2xlbjmj2hlbluna 205 6 Mireille Mireille NNP work_6fmxppcvcrd2xlbjmj2hlbluna 205 7   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 205 8 Cossee Cossee NNP work_6fmxppcvcrd2xlbjmj2hlbluna 205 9 http:// http:// RB work_6fmxppcvcrd2xlbjmj2hlbluna 205 10 orcid orcid VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 205 11 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 206 1 org/ org/ VB work_6fmxppcvcrd2xlbjmj2hlbluna 206 2 0000- 0000- CD work_6fmxppcvcrd2xlbjmj2hlbluna 206 3 0002- 0002- CD work_6fmxppcvcrd2xlbjmj2hlbluna 206 4 5931- 5931- CD work_6fmxppcvcrd2xlbjmj2hlbluna 206 5 7454 7454 CD work_6fmxppcvcrd2xlbjmj2hlbluna 206 6 REFERENCES reference NNS work_6fmxppcvcrd2xlbjmj2hlbluna 206 7 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 206 8 Koy Koy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 9 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 206 11 Ilkovski Ilkovski NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 12 B B NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 206 14 Laing Laing NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 15 N N NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 206 17 North North NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 18 K K NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 19 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 206 20 Weis Weis NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 21 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 206 23 Neuen- Neuen- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 24 Jacob Jacob NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 25 E E NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 26 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 206 27 Mayatepek Mayatepek NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 28 E E NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 29 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 206 30 Voit Voit NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 31 T. T. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 32 Nemaline Nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 33 myopathy myopathy NN work_6fmxppcvcrd2xlbjmj2hlbluna 206 34 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 206 35 exclusively exclusively RB work_6fmxppcvcrd2xlbjmj2hlbluna 206 36 intranuclear intranuclear JJ work_6fmxppcvcrd2xlbjmj2hlbluna 206 37 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 206 38 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 206 39 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 206 40 novel novel JJ work_6fmxppcvcrd2xlbjmj2hlbluna 206 41 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 206 42 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 206 43 ACTA1 ACTA1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 44 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 206 45 Q139H Q139H NNP work_6fmxppcvcrd2xlbjmj2hlbluna 206 46 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 206 47 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 207 1 Neuropediatrics neuropediatric NNS work_6fmxppcvcrd2xlbjmj2hlbluna 207 2 2007;38:282–6 2007;38:282–6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 207 3 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 208 1 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 208 2 Abdulhaq Abdulhaq NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 3 UN UN NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 208 5 Daana Daana NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 6 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 208 8 Dor Dor NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 9 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 208 11 Fellig Fellig NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 12 Y Y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 208 14 Eylon Eylon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 15 S S NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 208 17 Schuelke Schuelke NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 18 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 19 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 208 20 Shaag Shaag NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 21 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 208 23 Elpeleg Elpeleg NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 24 O O NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 25 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 208 26 Edvardson Edvardson NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 27 S. S. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 28 Nemaline Nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 29 body body NN work_6fmxppcvcrd2xlbjmj2hlbluna 208 30 myopathy myopathy NN work_6fmxppcvcrd2xlbjmj2hlbluna 208 31 caused cause VBN work_6fmxppcvcrd2xlbjmj2hlbluna 208 32 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 208 33 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 208 34 novel novel JJ work_6fmxppcvcrd2xlbjmj2hlbluna 208 35 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 208 36 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 208 37 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 38 T1 T1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 208 39 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 208 40 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 208 41 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 208 42 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 209 1 Muscle Muscle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 209 2 Nerve Nerve NNP work_6fmxppcvcrd2xlbjmj2hlbluna 209 3 2016;53:564–9 2016;53:564–9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 209 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 210 1 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 210 2 Malfatti Malfatti NNP work_6fmxppcvcrd2xlbjmj2hlbluna 210 3 E E NNP work_6fmxppcvcrd2xlbjmj2hlbluna 210 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 210 5 Romero Romero NNP work_6fmxppcvcrd2xlbjmj2hlbluna 210 6 NB NB NNP work_6fmxppcvcrd2xlbjmj2hlbluna 210 7 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 211 1 Nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 211 2 myopathies myopathy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 211 3 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 211 4 state state NN work_6fmxppcvcrd2xlbjmj2hlbluna 211 5 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 211 6 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 211 7 art art NN work_6fmxppcvcrd2xlbjmj2hlbluna 211 8 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 212 1 Rev Rev NNP work_6fmxppcvcrd2xlbjmj2hlbluna 212 2 Neurol Neurol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 212 3 2016;172:614–9 2016;172:614–9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 212 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 213 1 4 4 LS work_6fmxppcvcrd2xlbjmj2hlbluna 213 2 Johnston Johnston NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 3 JJ JJ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 213 5 Kelley Kelley NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 6 RI RI NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 213 8 Crawford Crawford NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 9 TO to IN work_6fmxppcvcrd2xlbjmj2hlbluna 213 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 213 11 Morton Morton NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 12 DH DH NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 213 14 Agarwala Agarwala NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 15 R R NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 213 17 Koch Koch NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 18 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 19 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 213 20 Schäffer Schäffer NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 21 AA AA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 213 23 Francomano Francomano NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 24 CA CA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 25 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 213 26 Biesecker Biesecker NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 27 LG LG NNP work_6fmxppcvcrd2xlbjmj2hlbluna 213 28 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 214 1 A a DT work_6fmxppcvcrd2xlbjmj2hlbluna 214 2 novel novel JJ work_6fmxppcvcrd2xlbjmj2hlbluna 214 3 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 214 4 myopathy myopathy NN work_6fmxppcvcrd2xlbjmj2hlbluna 214 5 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 214 6 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 214 7 Amish Amish NNP work_6fmxppcvcrd2xlbjmj2hlbluna 214 8 caused cause VBN work_6fmxppcvcrd2xlbjmj2hlbluna 214 9 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 214 10 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 214 11 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 214 12 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 214 13 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 214 14 T1 T1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 214 15 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 215 1 Am be VBP work_6fmxppcvcrd2xlbjmj2hlbluna 215 2 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 215 3 Hum Hum NNP work_6fmxppcvcrd2xlbjmj2hlbluna 215 4 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 215 5 2000;67:814–21 2000;67:814–21 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 215 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 216 1 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 216 2 Sewry Sewry NNP work_6fmxppcvcrd2xlbjmj2hlbluna 216 3 CA CA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 216 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 216 5 Laitila Laitila NNP work_6fmxppcvcrd2xlbjmj2hlbluna 216 6 JM JM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 216 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 216 8 Wallgren- Wallgren- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 216 9 Pettersson Pettersson NNP work_6fmxppcvcrd2xlbjmj2hlbluna 216 10 C. C. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 216 11 Nemaline Nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 216 12 myopathies myopathy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 216 13 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 216 14 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 216 15 current current JJ work_6fmxppcvcrd2xlbjmj2hlbluna 216 16 view view NN work_6fmxppcvcrd2xlbjmj2hlbluna 216 17 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 217 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 217 2 Muscle Muscle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 217 3 Res Res NNP work_6fmxppcvcrd2xlbjmj2hlbluna 217 4 Cell Cell NNP work_6fmxppcvcrd2xlbjmj2hlbluna 217 5 Motil Motil NNP work_6fmxppcvcrd2xlbjmj2hlbluna 217 6 2019;40:111–26 2019;40:111–26 CD work_6fmxppcvcrd2xlbjmj2hlbluna 217 7 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 218 1 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 218 2 Zenagui Zenagui NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 3 R R NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 5 Lacourt Lacourt NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 6 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 8 Pegeot Pegeot NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 9 H H NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 11 Yauy Yauy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 12 K K NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 14 Juntas Juntas NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 15 Morales Morales NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 16 R R NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 17 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 18 Theze Theze NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 19 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 21 Rivier Rivier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 22 F F NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 23 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 24 Cances Cances NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 25 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 26 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 27 Sole Sole NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 28 G G NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 29 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 30 Renard Renard NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 31 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 32 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 33 Walther- Walther- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 34 Louvier Louvier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 35 U U NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 36 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 37 Ferrer- Ferrer- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 38 Monasterio Monasterio NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 39 X X NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 40 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 41 Espil Espil NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 42 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 43 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 44 Arné Arné NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 45 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 218 46 Bes Bes NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 47 M- M- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 48 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 49 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 50 Cintas Cintas NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 51 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 52 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 53 Uro- Uro- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 54 Coste coste NN work_6fmxppcvcrd2xlbjmj2hlbluna 218 55 E E NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 56 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 57 Martin Martin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 58 Negrier Negrier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 59 M- M- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 60 L L NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 61 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 62 Rigau Rigau NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 63 V V NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 64 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 65 Bieth Bieth NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 66 E E NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 67 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 68 Goizet Goizet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 69 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 70 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 71 Claustres Claustres NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 72 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 73 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 74 Koenig Koenig NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 75 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 76 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 77 Cossée Cossée NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 78 M. M. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 79 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 80 reliable reliable JJ work_6fmxppcvcrd2xlbjmj2hlbluna 218 81 targeted target VBN work_6fmxppcvcrd2xlbjmj2hlbluna 218 82 next- next- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 218 83 generation generation NN work_6fmxppcvcrd2xlbjmj2hlbluna 218 84 sequencing sequencing NN work_6fmxppcvcrd2xlbjmj2hlbluna 218 85 strategy strategy NN work_6fmxppcvcrd2xlbjmj2hlbluna 218 86 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 218 87 diagnosis diagnosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 218 88 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 218 89 myopathies myopathy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 218 90 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 218 91 muscular muscular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 218 92 dystrophies dystrophy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 218 93 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 218 94 especially especially RB work_6fmxppcvcrd2xlbjmj2hlbluna 218 95 for for IN work_6fmxppcvcrd2xlbjmj2hlbluna 218 96 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 218 97 giant giant JJ work_6fmxppcvcrd2xlbjmj2hlbluna 218 98 titin titin NN work_6fmxppcvcrd2xlbjmj2hlbluna 218 99 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 218 100 nebulin nebulin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 218 101 genes gene NNS work_6fmxppcvcrd2xlbjmj2hlbluna 218 102 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 219 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 219 2 Mol Mol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 219 3 Diagn Diagn NNP work_6fmxppcvcrd2xlbjmj2hlbluna 219 4 2018;20:533–49 2018;20:533–49 CD work_6fmxppcvcrd2xlbjmj2hlbluna 219 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 220 1 7 7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 220 2 Wei Wei NNP work_6fmxppcvcrd2xlbjmj2hlbluna 220 3 B B NNP work_6fmxppcvcrd2xlbjmj2hlbluna 220 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 220 5 Jin Jin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 220 6 J- J- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 220 7 P. P. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 220 8 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 220 9 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 220 10 TNNT2 TNNT2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 220 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 220 12 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 220 13 TNNT3 tnnt3 PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 220 14 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 220 15 isoform isoform NN work_6fmxppcvcrd2xlbjmj2hlbluna 220 16 genes gene NNS work_6fmxppcvcrd2xlbjmj2hlbluna 220 17 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 220 18 regulation regulation NN work_6fmxppcvcrd2xlbjmj2hlbluna 220 19 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 220 20 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 220 21 structure- structure- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 220 22 function function NN work_6fmxppcvcrd2xlbjmj2hlbluna 220 23 relationships relationship NNS work_6fmxppcvcrd2xlbjmj2hlbluna 220 24 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 221 1 Gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 221 2 2016;582:1–13 2016;582:1–13 CD work_6fmxppcvcrd2xlbjmj2hlbluna 221 3 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 222 1 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 222 2 de de NNP work_6fmxppcvcrd2xlbjmj2hlbluna 222 3 Winter Winter NNP work_6fmxppcvcrd2xlbjmj2hlbluna 222 4 JM JM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 222 5 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 222 6 Ottenheijm Ottenheijm NNP work_6fmxppcvcrd2xlbjmj2hlbluna 222 7 CAC CAC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 222 8 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 223 1 Sarcomere sarcomere RB work_6fmxppcvcrd2xlbjmj2hlbluna 223 2 dysfunction dysfunction NN work_6fmxppcvcrd2xlbjmj2hlbluna 223 3 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 223 4 nemaline nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 223 5 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 223 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 224 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 224 2 Neuromuscul Neuromuscul NNP work_6fmxppcvcrd2xlbjmj2hlbluna 224 3 Dis Dis NNP work_6fmxppcvcrd2xlbjmj2hlbluna 224 4 2017;4:99–113 2017;4:99–113 CD work_6fmxppcvcrd2xlbjmj2hlbluna 224 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 225 1 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 225 2 van van NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 3 der der NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 4 Pol Pol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 5 WL WL NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 6 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 7 Leijenaar Leijenaar NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 8 JF JF NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 9 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 10 Spliet Spliet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 11 WGM WGM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 12 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 13 Lavrijsen Lavrijsen NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 14 SW SW NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 15 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 16 Jansen Jansen NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 17 NJG NJG NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 18 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 19 Braun Braun NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 20 KPJ KPJ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 21 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 22 Mulder Mulder NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 23 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 24 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 25 Timmers- Timmers- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 26 Raaijmakers Raaijmakers NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 27 B B NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 28 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 29 Ratsma Ratsma NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 30 K K NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 31 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 32 Dooijes Dooijes NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 33 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 225 35 van van NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 36 Haelst Haelst NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 37 MM MM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 225 38 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 226 1 Nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 226 2 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 226 3 caused cause VBD work_6fmxppcvcrd2xlbjmj2hlbluna 226 4 byTNNT1 byTNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 226 5 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 226 6 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 226 7 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 226 8 Dutch dutch JJ work_6fmxppcvcrd2xlbjmj2hlbluna 226 9 pedigree pedigree NN work_6fmxppcvcrd2xlbjmj2hlbluna 226 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 227 1 Mol Mol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 227 2 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 227 3 Genomic Genomic NNP work_6fmxppcvcrd2xlbjmj2hlbluna 227 4 Med Med NNP work_6fmxppcvcrd2xlbjmj2hlbluna 227 5 2014;2:134–7 2014;2:134–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 227 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 228 1 10 10 CD work_6fmxppcvcrd2xlbjmj2hlbluna 228 2 Marra Marra NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 3 JD JD NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 228 5 Engelstad Engelstad NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 6 KE KE NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 228 8 Ankala Ankala NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 9 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 228 11 Tanji Tanji NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 12 K K NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 228 14 Dastgir Dastgir NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 15 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 228 17 De De NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 18 Vivo Vivo NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 19 DC DC NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 228 21 Coffee Coffee NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 22 B B NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 23 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 228 24 Chiriboga Chiriboga NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 25 CA CA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 228 26 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 229 1 Identification identification NN work_6fmxppcvcrd2xlbjmj2hlbluna 229 2 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 229 3 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 229 4 novel novel JJ work_6fmxppcvcrd2xlbjmj2hlbluna 229 5 nemaline nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 229 6 myopathy- myopathy- JJ work_6fmxppcvcrd2xlbjmj2hlbluna 229 7 causing cause VBG work_6fmxppcvcrd2xlbjmj2hlbluna 229 8 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 229 9 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 229 10 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 229 11 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 229 12 T1 T1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 229 13 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 229 14 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 229 15 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 229 16 gene gene NN work_6fmxppcvcrd2xlbjmj2hlbluna 229 17 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 229 18 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 229 19 case case NN work_6fmxppcvcrd2xlbjmj2hlbluna 229 20 outside outside IN work_6fmxppcvcrd2xlbjmj2hlbluna 229 21 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 229 22 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 229 23 old old JJ work_6fmxppcvcrd2xlbjmj2hlbluna 229 24 order order NN work_6fmxppcvcrd2xlbjmj2hlbluna 229 25 Amish Amish NNP work_6fmxppcvcrd2xlbjmj2hlbluna 229 26 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 230 1 Muscle Muscle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 230 2 Nerve Nerve NNP work_6fmxppcvcrd2xlbjmj2hlbluna 230 3 2015;51:767–72 2015;51:767–72 CD work_6fmxppcvcrd2xlbjmj2hlbluna 230 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 231 1 11 11 CD work_6fmxppcvcrd2xlbjmj2hlbluna 231 2 Konersman Konersman NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 3 CG CG NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 231 5 Freyermuth Freyermuth NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 6 F F NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 231 8 Winder Winder NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 9 TL TL NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 231 11 Lawlor Lawlor NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 12 MW MW NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 231 14 Lagier- Lagier- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 15 Tourenne Tourenne NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 16 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 17 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 231 18 Patel Patel NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 19 SB SB NNP work_6fmxppcvcrd2xlbjmj2hlbluna 231 20 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 232 1 Novel novel JJ work_6fmxppcvcrd2xlbjmj2hlbluna 232 2 autosomal autosomal NN work_6fmxppcvcrd2xlbjmj2hlbluna 232 3 dominant dominant JJ work_6fmxppcvcrd2xlbjmj2hlbluna 232 4 TNNT1 TNNT1 '' work_6fmxppcvcrd2xlbjmj2hlbluna 232 5 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 232 6 causing cause VBG work_6fmxppcvcrd2xlbjmj2hlbluna 232 7 nemaline nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 232 8 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 232 9 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 233 1 Mol Mol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 233 2 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 233 3 Genomic Genomic NNP work_6fmxppcvcrd2xlbjmj2hlbluna 233 4 Med Med NNP work_6fmxppcvcrd2xlbjmj2hlbluna 233 5 2017;5:678–91 2017;5:678–91 CD work_6fmxppcvcrd2xlbjmj2hlbluna 233 6 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 234 1 12 12 CD work_6fmxppcvcrd2xlbjmj2hlbluna 234 2 Widmann Widmann NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 3 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 5 Stombaugh Stombaugh NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 6 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 8 McDonald McDonald NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 9 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 11 Chocholousova Chocholousova NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 12 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 14 Gardner Gardner NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 15 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 17 Iyer Iyer NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 18 MK MK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 19 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 20 Liu Liu NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 21 Z Z NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 23 Lozupone Lozupone NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 24 CA CA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 25 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 26 Quinn Quinn NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 27 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 28 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 29 Smit Smit NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 30 S S NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 31 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 32 Wikman Wikman NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 33 S S NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 35 Zaneveld Zaneveld NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 36 JRR JRR NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 37 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 234 38 Knight Knight NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 39 R. R. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 40 RNASTAR RNASTAR NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 41 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 234 42 an an DT work_6fmxppcvcrd2xlbjmj2hlbluna 234 43 RNA RNA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 44 structural structural JJ work_6fmxppcvcrd2xlbjmj2hlbluna 234 45 alignment alignment NN work_6fmxppcvcrd2xlbjmj2hlbluna 234 46 Repository Repository NNP work_6fmxppcvcrd2xlbjmj2hlbluna 234 47 that that WDT work_6fmxppcvcrd2xlbjmj2hlbluna 234 48 provides provide VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 234 49 insight insight NN work_6fmxppcvcrd2xlbjmj2hlbluna 234 50 into into IN work_6fmxppcvcrd2xlbjmj2hlbluna 234 51 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 234 52 evolution evolution NN work_6fmxppcvcrd2xlbjmj2hlbluna 234 53 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 234 54 natural natural JJ work_6fmxppcvcrd2xlbjmj2hlbluna 234 55 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 234 56 artificial artificial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 234 57 RNAs rna NNS work_6fmxppcvcrd2xlbjmj2hlbluna 234 58 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 235 1 RNA RNA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 235 2 2012;18:1319–27 2012;18:1319–27 CD work_6fmxppcvcrd2xlbjmj2hlbluna 235 3 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 236 1 Table table NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 2 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 3 Clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 4 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 5 genotypic genotypic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 6 data datum NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 7 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 8 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 9 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 10 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 11 pathogenic pathogenic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 12 variants variant NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 13 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 14 our -PRON- PRP$ work_6fmxppcvcrd2xlbjmj2hlbluna 236 15 series series NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 16 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 17 from from IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 18 previous previous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 19 publications publication NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 20 Bibliographic bibliographic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 21 reference reference NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 22 Patient patient NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 23 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 24 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 25 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 26 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 27 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 28 Amish4 Amish4 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 29 Dutch9 Dutch9 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 30 Hispanic hispanic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 31 New New NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 32 Yorkers10 Yorkers10 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 33 Palestinians2 Palestinians2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 34 Ashkenazi Ashkenazi NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 35 Jews Jews NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 236 36 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 236 37 US US NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 38 residents11 residents11 : work_6fmxppcvcrd2xlbjmj2hlbluna 236 39 Number number NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 40 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 41 cases case NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 42 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 43 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 44 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 45 6/71 6/71 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 46 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 47 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 48 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 49 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 50 1/10† 1/10† NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 51 Foetal foetal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 52 hypomobility hypomobility NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 53 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 54 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 55 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 56 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 57 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 58 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 59 + + UH work_6fmxppcvcrd2xlbjmj2hlbluna 236 60 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 61 Ogival ogival NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 62 palate palate NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 63 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 64 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 65 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 66 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 67 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 68 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 69 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 70 + + NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 71 Global global JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 72 hypotony hypotony NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 73 + + CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 74 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 75 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 76 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 77 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 78 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 79 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 80 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 81 Facial facial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 82 hypomimia hypomimia NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 83 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 84 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 85 UNK unk NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 86 UNK UNK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 87 UNK unk NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 88 UNK unk NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 89 UNK unk NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 90 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 91 Altered altered JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 92 global global JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 93 mobility mobility NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 94 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 95 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 96 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 97 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 98 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 99 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 100 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 101 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 102 Altered Altered NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 103 fine fine JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 104 motor motor NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 105 skills skill VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 236 106 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 107 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 108 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 109 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 110 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 111 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 112 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 113 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 114 Tremor tremor NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 115 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 116 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 236 117 first first JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 118 few few JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 119 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 120 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 121 life life NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 122 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 123 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 124 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 125 + + ADD work_6fmxppcvcrd2xlbjmj2hlbluna 236 126 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 127 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 128 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 129 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 130 Normal normal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 131 cognition cognition NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 132 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 133 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 134 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 135 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 136 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 137 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 138 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 139 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 140 Dysarthria dysarthria JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 141 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 236 142 expressive expressive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 143 language language NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 144 delay delay NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 145 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 146 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 147 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 148 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 149 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 150 + + XX work_6fmxppcvcrd2xlbjmj2hlbluna 236 151 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 152 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 153 Failure failure NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 154 to to TO work_6fmxppcvcrd2xlbjmj2hlbluna 236 155 thrive thrive VB work_6fmxppcvcrd2xlbjmj2hlbluna 236 156 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 157 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 158 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 159 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 160 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 161 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 162 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 163 UNK UNK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 164 Peripheral Peripheral NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 165 articular articular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 166 retraction retraction NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 167 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 168 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 169 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 170 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 171 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 172 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 173 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 174 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 175 Rigid rigid JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 176 spine spine NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 177 + + CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 178 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 179 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 180 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 181 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 182 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 183 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 184 UNK UNK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 185 Diaphragm Diaphragm NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 186 atrophy atrophy NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 187 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 236 188 diaphragmatic diaphragmatic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 189 hernia hernia NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 190 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 191 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 192 + + XX work_6fmxppcvcrd2xlbjmj2hlbluna 236 193 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 194 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 195 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 196 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 197 UNK UNK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 198 Thoracic Thoracic NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 199 dystrophy dystrophy NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 200 + + CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 201 + + XX work_6fmxppcvcrd2xlbjmj2hlbluna 236 202 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 203 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 204 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 205 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 206 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 207 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 208 Kyphoscoliosis kyphoscoliosis NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 209 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 210 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 211 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 212 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 213 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 214 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 215 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 216 + + CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 217 Respiratory respiratory JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 218 failure failure NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 219 + + CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 220 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 221 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 222 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 223 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 224 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 225 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 226 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 227 Ventilatory ventilatory NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 228 support support NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 229 NIV niv NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 230 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 231 NIV NIV NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 232 NIV niv NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 233 Tracheotomy tracheotomy NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 234 NIV NIV NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 235 NIV niv NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 236 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 237 tracheotomy tracheotomy NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 238 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 239 Gastrostomy Gastrostomy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 240 + + NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 236 241 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 242 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 243 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 244 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 245 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 246 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 247 – – : work_6fmxppcvcrd2xlbjmj2hlbluna 236 248 Death death NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 249 29 29 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 250 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 251 16 16 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 252 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 253 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 254 months month NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 255 Before before IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 256 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 257 years year NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 258 old old JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 259 UNK UNK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 260 UNK UNK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 261 Between between IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 262 2.4 2.4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 263 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 264 11 11 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 265 years year NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 266 old old JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 267 UNK UNK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 268 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 269 genetic genetic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 270 change change NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 271 Homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 272 deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 273 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 274 exons exon NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 275 8–9 8–9 : work_6fmxppcvcrd2xlbjmj2hlbluna 236 276 c.334G c.334g NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 277 > > XX work_6fmxppcvcrd2xlbjmj2hlbluna 236 278 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 279 p. p. NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 280 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 281 Glu112 glu112 ADD work_6fmxppcvcrd2xlbjmj2hlbluna 236 282 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 283 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 284 Heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 285 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 236 286 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 236 287 c.7467C c.7467c UH work_6fmxppcvcrd2xlbjmj2hlbluna 236 288 > > NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 289 A a DT work_6fmxppcvcrd2xlbjmj2hlbluna 236 290 leading lead VBG work_6fmxppcvcrd2xlbjmj2hlbluna 236 291 to to IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 292 out out IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 293 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 294 frame frame NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 295 partial partial JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 296 intronic intronic NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 297 retention retention NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 298 heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 299 Homozygous homozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 300 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 301 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 236 302 p.(Glu6 p.(glu6 NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 303 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 304 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 305 p.(Glu180 p.(Glu180 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 306 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 307 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 308 c.309 c.309 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 309 + + SYM work_6fmxppcvcrd2xlbjmj2hlbluna 236 310 1G 1g NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 311 > > XX work_6fmxppcvcrd2xlbjmj2hlbluna 236 312 A a NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 313 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 314 exon exon NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 315 8 8 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 316 skipping skipping NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 317 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 318 Heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 319 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 236 320 Deletion deletion NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 321 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 322 exon exon JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 323 14 14 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 324 heterozygous heterozygous JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 325 p.(Ser108 p.(ser108 NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 326 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 327 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 328 p.(Leu203 p.(leu203 NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 329 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 330 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 331 c.311A c.311A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 332 > > XX work_6fmxppcvcrd2xlbjmj2hlbluna 236 333 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 334 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 335 p.(Glu104Val p.(Glu104Val NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 336 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 337 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 236 338 Transmission Transmission NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 339 Autosomal Autosomal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 340 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 341 Autosomal Autosomal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 342 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 343 Autosomal Autosomal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 344 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 345 Autosomal Autosomal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 346 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 347 Autosomal Autosomal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 348 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 349 Autosomal Autosomal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 350 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 351 Autosomal Autosomal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 352 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 353 Autosomal Autosomal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 354 dominant dominant JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 355 * * NFP work_6fmxppcvcrd2xlbjmj2hlbluna 236 356 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 357 cases case NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 358 genotyped genotype VBN work_6fmxppcvcrd2xlbjmj2hlbluna 236 359 out out IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 360 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 361 71 71 CD work_6fmxppcvcrd2xlbjmj2hlbluna 236 362 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 236 363 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 236 364 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 236 365 Amish amish JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 366 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 367 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 236 368 clinical clinical JJ work_6fmxppcvcrd2xlbjmj2hlbluna 236 369 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 236 370 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 237 1 †1 †1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 237 2 case case NN work_6fmxppcvcrd2xlbjmj2hlbluna 237 3 genotyped genotype VBD work_6fmxppcvcrd2xlbjmj2hlbluna 237 4 out out IN work_6fmxppcvcrd2xlbjmj2hlbluna 237 5 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 237 6 10 10 CD work_6fmxppcvcrd2xlbjmj2hlbluna 237 7 cases case NNS work_6fmxppcvcrd2xlbjmj2hlbluna 237 8 described describe VBN work_6fmxppcvcrd2xlbjmj2hlbluna 237 9 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 238 1 NIV NIV NNP work_6fmxppcvcrd2xlbjmj2hlbluna 238 2 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 238 3 non- non- NN work_6fmxppcvcrd2xlbjmj2hlbluna 238 4 invasive invasive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 238 5 ventilation ventilation NN work_6fmxppcvcrd2xlbjmj2hlbluna 238 6 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 238 7 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 238 8 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 238 9 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 238 10 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 238 11 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 238 12 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 238 13 ; ; : work_6fmxppcvcrd2xlbjmj2hlbluna 238 14 UNK UNK NNP work_6fmxppcvcrd2xlbjmj2hlbluna 238 15 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 238 16 unknown unknown JJ work_6fmxppcvcrd2xlbjmj2hlbluna 238 17 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 239 1 o o XX work_6fmxppcvcrd2xlbjmj2hlbluna 239 2 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 3 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 4 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 5 ril ril NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 6 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 239 8 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 9 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 10 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 11 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 12 b b NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 13 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 14 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 15 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 16 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 17 st st NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 239 19 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 20 ro ro CC work_6fmxppcvcrd2xlbjmj2hlbluna 239 21 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 22 cte cte NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 23 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 24 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 25 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 26 co co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 27 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 28 yrig yrig NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 29 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 30 t. t. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 31 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 32 ttp ttp NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 33 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 239 34 //jm //jm . work_6fmxppcvcrd2xlbjmj2hlbluna 239 35 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 36 .b .b . work_6fmxppcvcrd2xlbjmj2hlbluna 239 37 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 38 j.co j.co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 39 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 40 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 239 41 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 42 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 43 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 44 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 45 G g NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 46 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 47 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 48 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 49 t t NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 50 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 239 51 first first RB work_6fmxppcvcrd2xlbjmj2hlbluna 239 52 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 53 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 54 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 55 lish lish NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 56 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 57 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 58 a a NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 59 s s NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 60 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 61 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 62 .1 .1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 63 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 64 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 65 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 66 /jm /jm SYM work_6fmxppcvcrd2xlbjmj2hlbluna 239 67 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 68 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 69 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 70 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 71 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 72 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 73 t-2 t-2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 74 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 75 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 76 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 77 -1 -1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 78 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 79 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 80 7 7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 81 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 82 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 83 o o NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 84 n n NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 85 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 86 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 87 S s NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 88 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 89 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 239 90 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 91 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 92 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 93 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 94 r r NNP work_6fmxppcvcrd2xlbjmj2hlbluna 239 95 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 96 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 97 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 98 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 239 99 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 240 1 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 2 o o NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 3 w w NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 4 n n XX work_6fmxppcvcrd2xlbjmj2hlbluna 240 5 lo lo NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 240 7 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 8 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 9 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 10 fro fro NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 11 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 12 http://creativecommons.org/licenses/by-nc/4.0/ http://creativecommons.org/licenses/by-nc/4.0/ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 13 http://orcid.org/0000-0002-0377-0807 http://orcid.org/0000-0002-0377-0807 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 14 http://orcid.org/0000-0001-5508-1678 http://orcid.org/0000-0001-5508-1678 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 15 http://orcid.org/0000-0002-5931-7454 http://orcid.org/0000-0002-5931-7454 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 16 http://dx.doi.org/10.1055/s-2008-1065356 http://dx.doi.org/10.1055/s-2008-1065356 NNS work_6fmxppcvcrd2xlbjmj2hlbluna 240 17 http://dx.doi.org/10.1002/mus.24885 http://dx.doi.org/10.1002/mus.24885 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 18 http://dx.doi.org/10.1016/j.neurol.2016.08.004 http://dx.doi.org/10.1016/j.neurol.2016.08.004 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 19 http://dx.doi.org/10.1086/303089 http://dx.doi.org/10.1086/303089 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 20 http://dx.doi.org/10.1007/s10974-019-09519-9 http://dx.doi.org/10.1007/s10974-019-09519-9 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 21 http://dx.doi.org/10.1007/s10974-019-09519-9 http://dx.doi.org/10.1007/s10974-019-09519-9 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 22 http://dx.doi.org/10.1016/j.jmoldx.2018.04.001 http://dx.doi.org/10.1016/j.jmoldx.2018.04.001 NN work_6fmxppcvcrd2xlbjmj2hlbluna 240 23 http://dx.doi.org/10.1016/j.gene.2016.01.006 http://dx.doi.org/10.1016/j.gene.2016.01.006 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 24 http://dx.doi.org/10.3233/JND-160200 http://dx.doi.org/10.3233/JND-160200 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 25 http://dx.doi.org/10.3233/JND-160200 http://dx.doi.org/10.3233/JND-160200 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 26 http://dx.doi.org/10.1002/mgg3.52 http://dx.doi.org/10.1002/mgg3.52 NN work_6fmxppcvcrd2xlbjmj2hlbluna 240 27 http://dx.doi.org/10.1002/mus.24528 http://dx.doi.org/10.1002/mus.24528 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 28 http://dx.doi.org/10.1002/mgg3.325 http://dx.doi.org/10.1002/mgg3.325 ADD work_6fmxppcvcrd2xlbjmj2hlbluna 240 29 http://dx.doi.org/10.1002/mgg3.325 http://dx.doi.org/10.1002/mgg3.325 ADD work_6fmxppcvcrd2xlbjmj2hlbluna 240 30 http://dx.doi.org/10.1261/rna.032052.111 http://dx.doi.org/10.1261/rna.032052.111 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 31 http://jmg.bmj.com/ http://jmg.bmj.com/ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 32 7Géraud 7Géraud NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 33 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 240 35 et et NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 36   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 240 37 al al NNP work_6fmxppcvcrd2xlbjmj2hlbluna 240 38 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 241 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 241 2 Med Med NNP work_6fmxppcvcrd2xlbjmj2hlbluna 241 3 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 241 4 2020;0:1–7 2020;0:1–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 241 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 242 1 doi:10.1136 doi:10.1136 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 2 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 242 3 jmedgenet-2019 jmedgenet-2019 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 4 - - HYPH work_6fmxppcvcrd2xlbjmj2hlbluna 242 5 106714 106714 CD work_6fmxppcvcrd2xlbjmj2hlbluna 242 6 Diagnostics Diagnostics NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 242 7 13 13 CD work_6fmxppcvcrd2xlbjmj2hlbluna 242 8 Garibaldi Garibaldi NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 9 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 11 Rendu Rendu NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 12 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 13 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 14 Brocard Brocard NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 15 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 16 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 17 Lacene Lacene NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 18 E E NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 19 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 20 Fauré Fauré NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 21 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 22 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 23 Brochier Brochier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 24 G G NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 25 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 26 Beuvin Beuvin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 27 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 28 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 29 Labasse Labasse NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 30 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 31 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 32 Madelaine Madelaine NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 33 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 34 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 35 Malfatti Malfatti NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 36 E E NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 37 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 38 Bevilacqua Bevilacqua NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 39 JA JA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 40 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 41 Lubieniecki Lubieniecki NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 42 F F NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 43 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 44 Monges Monges NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 45 S S NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 46 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 47 Taratuto Taratuto NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 48 AL AL NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 49 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 50 Laporte Laporte NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 51 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 52 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 53 Marty Marty NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 54 I I NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 55 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 56 Antonini Antonini NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 57 G G NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 58 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 59 Romero Romero NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 60 NB NB NNP work_6fmxppcvcrd2xlbjmj2hlbluna 242 61 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 242 62 disease disease NN work_6fmxppcvcrd2xlbjmj2hlbluna 242 63 ’ ' '' work_6fmxppcvcrd2xlbjmj2hlbluna 242 64 ’ ' '' work_6fmxppcvcrd2xlbjmj2hlbluna 242 65 Dusty dusty JJ work_6fmxppcvcrd2xlbjmj2hlbluna 242 66 core core NN work_6fmxppcvcrd2xlbjmj2hlbluna 242 67 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 243 1 ’ ' '' work_6fmxppcvcrd2xlbjmj2hlbluna 243 2 Dusty dusty JJ work_6fmxppcvcrd2xlbjmj2hlbluna 243 3 core core NN work_6fmxppcvcrd2xlbjmj2hlbluna 243 4 disease disease NN work_6fmxppcvcrd2xlbjmj2hlbluna 243 5 ’ ' '' work_6fmxppcvcrd2xlbjmj2hlbluna 243 6 ( ( -LRB- work_6fmxppcvcrd2xlbjmj2hlbluna 243 7 DuCD DuCD NNP work_6fmxppcvcrd2xlbjmj2hlbluna 243 8 ) ) -RRB- work_6fmxppcvcrd2xlbjmj2hlbluna 243 9 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 243 10 expanding expand VBG work_6fmxppcvcrd2xlbjmj2hlbluna 243 11 morphological morphological JJ work_6fmxppcvcrd2xlbjmj2hlbluna 243 12 spectrum spectrum NN work_6fmxppcvcrd2xlbjmj2hlbluna 243 13 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 243 14 RyR1 RyR1 `` work_6fmxppcvcrd2xlbjmj2hlbluna 243 15 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 243 16 myopathies myopathy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 243 17 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 244 1 Acta Acta NNP work_6fmxppcvcrd2xlbjmj2hlbluna 244 2 Neuropathol Neuropathol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 244 3 Commun Commun NNP work_6fmxppcvcrd2xlbjmj2hlbluna 244 4 2019;7 2019;7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 244 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 245 1 14 14 CD work_6fmxppcvcrd2xlbjmj2hlbluna 245 2 Viguier Viguier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 3 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 5 Lauwers- Lauwers- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 6 Cances Cances NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 7 V V NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 8 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 9 Cintas Cintas NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 10 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 12 Manel Manel NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 13 V V NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 14 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 15 Peudenier Peudenier NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 16 S S NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 17 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 18 Desguerre Desguerre NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 19 I -PRON- PRP work_6fmxppcvcrd2xlbjmj2hlbluna 245 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 21 Quijano- Quijano- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 22 Roy Roy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 23 S S NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 24 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 25 Vanhulle Vanhulle NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 26 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 27 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 28 Fradin Fradin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 29 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 30 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 31 Isapof Isapof NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 32 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 33 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 34 Jokic Jokic NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 35 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 36 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 37 Mathieu- Mathieu- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 38 Dramard Dramard NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 39 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 40 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 41 Dieterich Dieterich NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 42 K K NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 43 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 44 Petit Petit NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 45 F F NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 46 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 47 Magdelaine Magdelaine NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 48 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 49 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 50 Giuliano Giuliano NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 51 F F NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 52 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 53 Gras Gras NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 54 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 55 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 56 Haye Haye NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 57 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 58 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 59 Nizon Nizon NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 60 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 61 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 62 Magen Magen NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 63 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 64 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 65 Bieth Bieth NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 66 E E NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 67 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 245 68 Cances Cances NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 245 69 C. C. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 70 Spinal Spinal NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 71 muscular muscular JJ work_6fmxppcvcrd2xlbjmj2hlbluna 245 72 atrophy atrophy NN work_6fmxppcvcrd2xlbjmj2hlbluna 245 73 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 245 74 respiratory respiratory JJ work_6fmxppcvcrd2xlbjmj2hlbluna 245 75 distress distress NN work_6fmxppcvcrd2xlbjmj2hlbluna 245 76 type type NN work_6fmxppcvcrd2xlbjmj2hlbluna 245 77 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 245 78 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 245 79 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 245 80 multicenter multicenter NNP work_6fmxppcvcrd2xlbjmj2hlbluna 245 81 retrospective retrospective JJ work_6fmxppcvcrd2xlbjmj2hlbluna 245 82 study study NN work_6fmxppcvcrd2xlbjmj2hlbluna 245 83 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 246 1 Neuromuscul Neuromuscul NNP work_6fmxppcvcrd2xlbjmj2hlbluna 246 2 Disord Disord NNP work_6fmxppcvcrd2xlbjmj2hlbluna 246 3 2019;29:114–26 2019;29:114–26 CD work_6fmxppcvcrd2xlbjmj2hlbluna 246 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 247 1 15 15 CD work_6fmxppcvcrd2xlbjmj2hlbluna 247 2 Piteau Piteau NNP work_6fmxppcvcrd2xlbjmj2hlbluna 247 3 SJ SJ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 247 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 247 5 Rossiter Rossiter NNP work_6fmxppcvcrd2xlbjmj2hlbluna 247 6 JP JP NNP work_6fmxppcvcrd2xlbjmj2hlbluna 247 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 247 8 Smith Smith NNP work_6fmxppcvcrd2xlbjmj2hlbluna 247 9 RG RG NNP work_6fmxppcvcrd2xlbjmj2hlbluna 247 10 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 247 11 MacKenzie MacKenzie NNP work_6fmxppcvcrd2xlbjmj2hlbluna 247 12 JJ JJ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 247 13 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 248 1 Congenital congenital JJ work_6fmxppcvcrd2xlbjmj2hlbluna 248 2 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 248 3 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 248 4 cap- cap- NN work_6fmxppcvcrd2xlbjmj2hlbluna 248 5 like like IN work_6fmxppcvcrd2xlbjmj2hlbluna 248 6 structures structure NNS work_6fmxppcvcrd2xlbjmj2hlbluna 248 7 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 248 8 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 248 9 rods rod NNS work_6fmxppcvcrd2xlbjmj2hlbluna 248 10 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 248 11 case case NN work_6fmxppcvcrd2xlbjmj2hlbluna 248 12 report report NN work_6fmxppcvcrd2xlbjmj2hlbluna 248 13 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 248 14 literature literature NN work_6fmxppcvcrd2xlbjmj2hlbluna 248 15 review review NN work_6fmxppcvcrd2xlbjmj2hlbluna 248 16 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 249 1 Pediatr Pediatr NNP work_6fmxppcvcrd2xlbjmj2hlbluna 249 2 Neurol Neurol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 249 3 2014;51:192–7 2014;51:192–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 249 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 250 1 16 16 CD work_6fmxppcvcrd2xlbjmj2hlbluna 250 2 Fox Fox NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 3 MD MD NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 250 5 Carson Carson NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 6 VJ VJ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 250 8 Feng Feng NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 9 H- H- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 10 Z z NN work_6fmxppcvcrd2xlbjmj2hlbluna 250 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 250 12 Lawlor Lawlor NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 13 MW MW NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 14 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 250 15 Gray Gray NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 16 JT JT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 17 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 250 18 Brigatti Brigatti NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 19 KW KW NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 250 21 Jin Jin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 22 J- J- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 23 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 24 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 250 25 Strauss Strauss NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 26 KA KA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 250 27 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 251 1 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 251 2 nemaline nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 251 3 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 251 4 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 251 5 natural natural JJ work_6fmxppcvcrd2xlbjmj2hlbluna 251 6 history history NN work_6fmxppcvcrd2xlbjmj2hlbluna 251 7 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 251 8 therapeutic therapeutic JJ work_6fmxppcvcrd2xlbjmj2hlbluna 251 9 frontier frontier NN work_6fmxppcvcrd2xlbjmj2hlbluna 251 10 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 252 1 Hum Hum NNP work_6fmxppcvcrd2xlbjmj2hlbluna 252 2 Mol Mol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 252 3 Genet Genet NNP work_6fmxppcvcrd2xlbjmj2hlbluna 252 4 2018;27:3272–82 2018;27:3272–82 CD work_6fmxppcvcrd2xlbjmj2hlbluna 252 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 253 1 17 17 CD work_6fmxppcvcrd2xlbjmj2hlbluna 253 2 Amarasinghe Amarasinghe NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 3 C C NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 253 5 Hossain Hossain NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 6 MM MM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 253 8 Jin Jin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 9 J- J- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 10 P. P. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 11 Functional functional JJ work_6fmxppcvcrd2xlbjmj2hlbluna 253 12 basis basis NN work_6fmxppcvcrd2xlbjmj2hlbluna 253 13 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 253 14 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 253 15 new new JJ work_6fmxppcvcrd2xlbjmj2hlbluna 253 16 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 253 17 mutations mutation NNS work_6fmxppcvcrd2xlbjmj2hlbluna 253 18 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 253 19 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 253 20 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 253 21 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 253 22 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 23 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 24 found find VBD work_6fmxppcvcrd2xlbjmj2hlbluna 253 25 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 253 26 Non- Non- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 27 Amish Amish NNP work_6fmxppcvcrd2xlbjmj2hlbluna 253 28 TNNT1 tnnt1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 253 29 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 253 30 myopathies myopathy NNS work_6fmxppcvcrd2xlbjmj2hlbluna 253 31 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 254 1 Biochemistry Biochemistry NNP work_6fmxppcvcrd2xlbjmj2hlbluna 254 2 2016;55:4560–7 2016;55:4560–7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 254 3 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 255 1 18 18 CD work_6fmxppcvcrd2xlbjmj2hlbluna 255 2 Wang Wang NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 3 X X NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 255 5 Huang Huang NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 6 Q- Q- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 7 Q Q NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 8 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 255 9 Breckenridge Breckenridge NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 10 MT MT NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 255 12 Chen Chen NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 13 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 14 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 255 15 Crawford Crawford NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 16 TO to IN work_6fmxppcvcrd2xlbjmj2hlbluna 255 17 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 255 18 Morton Morton NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 19 DH DH NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 20 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 255 21 Jin Jin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 22 J- J- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 23 P. P. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 24 Cellular Cellular NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 25 fate fate NN work_6fmxppcvcrd2xlbjmj2hlbluna 255 26 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 255 27 truncated truncate VBN work_6fmxppcvcrd2xlbjmj2hlbluna 255 28 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 255 29 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 255 30 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 255 31 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 32 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 33 produced produce VBN work_6fmxppcvcrd2xlbjmj2hlbluna 255 34 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 255 35 Glu180 Glu180 JJR work_6fmxppcvcrd2xlbjmj2hlbluna 255 36 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 255 37 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 255 38 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 255 39 Amish amish JJ work_6fmxppcvcrd2xlbjmj2hlbluna 255 40 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 255 41 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 255 42 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 256 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 256 2 Biol Biol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 256 3 Chem Chem NNP work_6fmxppcvcrd2xlbjmj2hlbluna 256 4 2005;280:13241–9 2005;280:13241–9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 256 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 257 1 19 19 CD work_6fmxppcvcrd2xlbjmj2hlbluna 257 2 Jin Jin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 3 J- J- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 4 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 5 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 257 6 Brotto Brotto NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 7 MA MA NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 8 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 257 9 Hossain Hossain NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 10 MM MM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 257 12 Huang Huang NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 13 Q- Q- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 14 Q Q NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 15 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 257 16 Brotto Brotto NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 17 LS LS NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 18 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 257 19 Nosek Nosek NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 20 TM TM NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 21 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 257 22 Morton Morton NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 23 DH DH NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 24 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 257 25 Crawford Crawford NNP work_6fmxppcvcrd2xlbjmj2hlbluna 257 26 TO to IN work_6fmxppcvcrd2xlbjmj2hlbluna 257 27 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 258 1 Truncation truncation NN work_6fmxppcvcrd2xlbjmj2hlbluna 258 2 by by IN work_6fmxppcvcrd2xlbjmj2hlbluna 258 3 Glu180 glu180 CD work_6fmxppcvcrd2xlbjmj2hlbluna 258 4 nonsense nonsense NN work_6fmxppcvcrd2xlbjmj2hlbluna 258 5 mutation mutation NN work_6fmxppcvcrd2xlbjmj2hlbluna 258 6 results result NNS work_6fmxppcvcrd2xlbjmj2hlbluna 258 7 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 258 8 complete complete JJ work_6fmxppcvcrd2xlbjmj2hlbluna 258 9 loss loss NN work_6fmxppcvcrd2xlbjmj2hlbluna 258 10 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 258 11 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 258 12 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 258 13 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 258 14 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 258 15 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 258 16 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 258 17 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 258 18 lethal lethal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 258 19 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 258 20 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 258 21 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 259 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 259 2 Biol Biol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 259 3 Chem Chem NNP work_6fmxppcvcrd2xlbjmj2hlbluna 259 4 2003;278:26159–65 2003;278:26159–65 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 259 5 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 260 1 20 20 CD work_6fmxppcvcrd2xlbjmj2hlbluna 260 2 Oki Oki NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 3 K k NN work_6fmxppcvcrd2xlbjmj2hlbluna 260 4 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 260 5 Wei Wei NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 6 B B NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 260 8 Feng Feng NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 9 H- H- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 10 Z z NN work_6fmxppcvcrd2xlbjmj2hlbluna 260 11 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 260 12 Jin Jin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 13 J- J- NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 14 P. P. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 15 The the DT work_6fmxppcvcrd2xlbjmj2hlbluna 260 16 loss loss NN work_6fmxppcvcrd2xlbjmj2hlbluna 260 17 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 260 18 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 260 19 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 260 20 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 260 21 isoform isoform NN work_6fmxppcvcrd2xlbjmj2hlbluna 260 22 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 260 23 troponin troponin JJ work_6fmxppcvcrd2xlbjmj2hlbluna 260 24 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 25 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 260 26 spindle spindle JJ work_6fmxppcvcrd2xlbjmj2hlbluna 260 27 intrafusal intrafusal NN work_6fmxppcvcrd2xlbjmj2hlbluna 260 28 fibres fibre NNS work_6fmxppcvcrd2xlbjmj2hlbluna 260 29 explains explain VBZ work_6fmxppcvcrd2xlbjmj2hlbluna 260 30 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 260 31 pathophysiology pathophysiology NN work_6fmxppcvcrd2xlbjmj2hlbluna 260 32 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 260 33 Amish amish JJ work_6fmxppcvcrd2xlbjmj2hlbluna 260 34 nemaline nemaline JJ work_6fmxppcvcrd2xlbjmj2hlbluna 260 35 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 260 36 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 261 1 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 261 2 Physiol Physiol NNP work_6fmxppcvcrd2xlbjmj2hlbluna 261 3 2019;597:3999–4012 2019;597:3999–4012 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 261 4 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 262 1 o o XX work_6fmxppcvcrd2xlbjmj2hlbluna 262 2 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 3 A A NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 4 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 5 ril ril NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 6 5 5 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 7 , , , work_6fmxppcvcrd2xlbjmj2hlbluna 262 8 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 9 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 10 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 11 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 12 b b NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 13 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 14 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 15 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 16 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 17 st st NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 18 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 262 19 P P NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 20 ro ro CC work_6fmxppcvcrd2xlbjmj2hlbluna 262 21 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 22 cte cte NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 23 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 24 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 25 y y NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 26 co co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 27 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 28 yrig yrig NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 29 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 30 t. t. NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 31 h h NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 32 ttp ttp NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 33 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 262 34 //jm //jm . work_6fmxppcvcrd2xlbjmj2hlbluna 262 35 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 36 .b .b . work_6fmxppcvcrd2xlbjmj2hlbluna 262 37 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 38 j.co j.co NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 39 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 40 / / SYM work_6fmxppcvcrd2xlbjmj2hlbluna 262 41 J J NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 42 M M NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 43 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 44 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 45 G g NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 46 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 47 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 48 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 49 t t NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 50 : : : work_6fmxppcvcrd2xlbjmj2hlbluna 262 51 first first RB work_6fmxppcvcrd2xlbjmj2hlbluna 262 52 p p NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 53 u u NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 54 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 55 lish lish NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 56 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 57 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 58 a a NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 59 s s NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 60 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 61 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 62 .1 .1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 63 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 64 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 65 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 66 /jm /jm SYM work_6fmxppcvcrd2xlbjmj2hlbluna 262 67 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 68 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 69 g g NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 70 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 71 n n NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 72 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 73 t-2 t-2 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 74 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 75 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 76 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 77 -1 -1 NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 78 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 79 6 6 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 80 7 7 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 81 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 82 4 4 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 83 o o NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 84 n n NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 85 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 86 9 9 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 87 S s NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 88 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 89 p p NN work_6fmxppcvcrd2xlbjmj2hlbluna 262 90 te te NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 91 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 92 b b NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 93 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 94 r r NNP work_6fmxppcvcrd2xlbjmj2hlbluna 262 95 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 96 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 97 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 98 0 0 CD work_6fmxppcvcrd2xlbjmj2hlbluna 262 99 . . . work_6fmxppcvcrd2xlbjmj2hlbluna 263 1 D D NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 2 o o NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 3 w w NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 4 n n XX work_6fmxppcvcrd2xlbjmj2hlbluna 263 5 lo lo NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 6 a a DT work_6fmxppcvcrd2xlbjmj2hlbluna 263 7 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 8 e e NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 9 d d NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 10 fro fro NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 11 m m NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 12 http://dx.doi.org/10.1186/s40478-018-0655-5 http://dx.doi.org/10.1186/s40478-018-0655-5 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 13 http://dx.doi.org/10.1186/s40478-018-0655-5 http://dx.doi.org/10.1186/s40478-018-0655-5 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 14 http://dx.doi.org/10.1016/j.nmd.2018.10.002 http://dx.doi.org/10.1016/j.nmd.2018.10.002 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 15 http://dx.doi.org/10.1016/j.pediatrneurol.2014.04.002 http://dx.doi.org/10.1016/j.pediatrneurol.2014.04.002 VB work_6fmxppcvcrd2xlbjmj2hlbluna 263 16 http://dx.doi.org/10.1093/hmg/ddy233 http://dx.doi.org/10.1093/hmg/ddy233 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 17 http://dx.doi.org/10.1021/acs.biochem.6b00577 http://dx.doi.org/10.1021/acs.biochem.6b00577 NNS work_6fmxppcvcrd2xlbjmj2hlbluna 263 18 http://dx.doi.org/10.1074/jbc.M413696200 http://dx.doi.org/10.1074/jbc.M413696200 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 19 http://dx.doi.org/10.1074/jbc.M303469200 http://dx.doi.org/10.1074/jbc.M303469200 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 20 http://dx.doi.org/10.1113/JP278119 http://dx.doi.org/10.1113/jp278119 CD work_6fmxppcvcrd2xlbjmj2hlbluna 263 21 http://jmg.bmj.com/ http://jmg.bmj.com/ NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 22 Clinical Clinical NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 23 phenotype phenotype NN work_6fmxppcvcrd2xlbjmj2hlbluna 263 24 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 263 25 loss loss NN work_6fmxppcvcrd2xlbjmj2hlbluna 263 26 of of IN work_6fmxppcvcrd2xlbjmj2hlbluna 263 27 the the DT work_6fmxppcvcrd2xlbjmj2hlbluna 263 28 slow slow JJ work_6fmxppcvcrd2xlbjmj2hlbluna 263 29 skeletal skeletal JJ work_6fmxppcvcrd2xlbjmj2hlbluna 263 30 muscle muscle NN work_6fmxppcvcrd2xlbjmj2hlbluna 263 31 troponin troponin NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 32 T T NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 33 in in IN work_6fmxppcvcrd2xlbjmj2hlbluna 263 34 three three CD work_6fmxppcvcrd2xlbjmj2hlbluna 263 35 new new JJ work_6fmxppcvcrd2xlbjmj2hlbluna 263 36 patients patient NNS work_6fmxppcvcrd2xlbjmj2hlbluna 263 37 with with IN work_6fmxppcvcrd2xlbjmj2hlbluna 263 38 recessive recessive JJ work_6fmxppcvcrd2xlbjmj2hlbluna 263 39 TNNT1 TNNT1 NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 40 nemaline nemaline NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 41   _SP work_6fmxppcvcrd2xlbjmj2hlbluna 263 42 myopathy myopathy NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 43 Abstract Abstract NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 44 Introduction Introduction NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 45 Materials Materials NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 263 46 and and CC work_6fmxppcvcrd2xlbjmj2hlbluna 263 47 methods method NNS work_6fmxppcvcrd2xlbjmj2hlbluna 263 48 Sequencing sequence VBG work_6fmxppcvcrd2xlbjmj2hlbluna 263 49 Western western JJ work_6fmxppcvcrd2xlbjmj2hlbluna 263 50 blot blot NN work_6fmxppcvcrd2xlbjmj2hlbluna 263 51 Results Results NNPS work_6fmxppcvcrd2xlbjmj2hlbluna 263 52 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 53 1 1 CD work_6fmxppcvcrd2xlbjmj2hlbluna 263 54 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 55 2 2 CD work_6fmxppcvcrd2xlbjmj2hlbluna 263 56 Patient Patient NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 57 3 3 CD work_6fmxppcvcrd2xlbjmj2hlbluna 263 58 Discussion Discussion NNP work_6fmxppcvcrd2xlbjmj2hlbluna 263 59 References reference NNS