We report on the clinical manifestation of spinocerebellar ataxia 17 (SCA17) in 3 members of a German family, in whom the pathological repeat expansion in the TATA-binding protein gene ranged from 53 to 55 repeats (normal: 29-42). The main clinical features were focal dystonia as presenting sign, fo
Dystonia as a presenting sign of subacute necrotising encephalomyelopathy in infancy
โ Scribed by J. Campistol; V. Cusi; A. Vernet; E. Fernandez-Alvarez
- Publisher
- Springer
- Year
- 1986
- Tongue
- English
- Weight
- 735 KB
- Volume
- 144
- Category
- Article
- ISSN
- 0340-6997
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