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TorsinA protein and neuropathology in early onset generalized dystonia with GAG deletion

โœ Scribed by Kevin Rostasy; Sarah J Augood; Jeffrey W Hewett; Joanne Chung-on Leung; Hikaru Sasaki; Laurie J Ozelius; Vijaya Ramesh; David G Standaert; Xandra O Breakefield; John C Hedreen


Book ID
117688480
Publisher
Elsevier Science
Year
2003
Tongue
English
Weight
628 KB
Volume
12
Category
Article
ISSN
0969-9961

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Hereditary torsion dystonia represent a clinically and genetically heterogeneous group of movement disorders. The most severe and frequent form of hereditary torsion dystonia is early-onset generalized dystonia, DYT1. The DYT1 gene (Ozelius et al, 1997) encodes an ATP-binding protein torsin A. A uni