id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_xfeub6pq5zhrrhlvl3o6y2c66y	Jennifer J. Johnston	A Novel Nemaline Myopathy in the Amish Caused by a Mutation in Troponin T1	2000.0	8	.pdf	application/pdf	5076	454	61	pedigree software, and linkage analysis of DNA samples from four sibships, we identified an ∼2-cM interval on protein, slow skeletal muscle troponin T (TNNT1), maps to this interval and was sequenced. conclude that Amish nemaline myopathy is a distinct, heritable, myopathic disorder caused by a mutation in TNNT1. from an Old Order Amish genealogy database and represents a portion of the simplest pedigree that connects 33 affected nuclear families to support the hypothesis that ANM is inherited in an autosomal recessive pattern and is linked to the chromosome 19 region containing the gene TNNT1, suggested The identified mutation of TNNT1 predicts a truncation of the TnT protein at amino acid 180, removing (1995) A mutation in the a-tropomyosin gene TPM3 associated with autosomal dominant nemaline myopathy. Johnston et al.: TNNT1 Gene Mutation in Nemaline Myopathy 821 Johnston et al.: TNNT1 Gene Mutation in Nemaline Myopathy 821 Johnston et al.: TNNT1 Gene Mutation in Nemaline Myopathy 821	./cache/work_xfeub6pq5zhrrhlvl3o6y2c66y.pdf	./txt/work_xfeub6pq5zhrrhlvl3o6y2c66y.txt