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Phenotypic variability of the DYT1 mutation in German dystonia patients

✍ Scribed by B. Leube; K. R. Kessler; A. Ferbert; M. Ebke; G. Schwendemann; F. Erbguth; R. Benecke; G. Auburger


Book ID
109337010
Publisher
John Wiley and Sons
Year
1999
Tongue
English
Weight
474 KB
Volume
99
Category
Article
ISSN
0001-6314

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## Abstract Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous group of movement disorders, usually inherited in an autosomal dominant manner with reduced (30–40%) penetrance. The DYT1 gene on chromosome 9q34 is responsible for most cases of early limb‐onset PTD. DYT1‐PTD

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