id	author	title	date	pages	extension	mime	words	sentences	flesch	summary	cache	txt
work_krlm6ughq5hhpa62eajv5igacq	Lena Elisabeth Hjermind	Inherited and de novo mutations in sporadic cases of DYT1-dystonia	2002	4	.pdf	application/pdf	2415	188	62	A study of Danish probands with primary torsion dystonia is presented. DYT1 gene were performed on 107 probands; and the mutation was detected in three. probands had, obviously, sporadic DYT1-dystonia, one of which was caused by a de novo mutation, while the dystonia was low in our study even though several probands had early onset generalised dystonia. the probands in our study with other types of dystonia had the GAG-deletion as reported in other studies. The difficulties in genetic counselling concerning the heterogeneity of dystonia examplified by DYT1Keywords: primary torsion dystonia; DYT1 gene; de novo mutation; hereditary; non-penetrance The mutation in the DYT1 gene is a GAG-deletion at the probands with the DYT1-mutation had a positive family reported,10 but de novo mutations in the DYT1 gene have DYT1 mutation in German dystonia patients. mutation in primary torsion dystonia without family history. Inherited and de novo mutations in sporadic cases of DYT1-dystonia	./cache/work_krlm6ughq5hhpa62eajv5igacq.pdf	./txt/work_krlm6ughq5hhpa62eajv5igacq.txt