## Abstract Huntington disease‐like 2 (HDL2) is a neurodegenerative disorder caused by an expansion of a CTG repeat in the junctophilin‐3 gene (__JPH3__). A limited number of HDL2 families have been reported, all of apparently Black African ancestry. We report on a South African family that present
Clinical and genetic evaluation of a family with a mixed dystonia phenotype from south tyrol
✍ Scribed by Christine Klein; Peter P. Pramstaller; Claudio C. Castellan; Xandra O. Breakefield; Patricia L. Kramer; Dr. Laurie J. Ozelius
- Publisher
- John Wiley and Sons
- Year
- 1998
- Tongue
- English
- Weight
- 446 KB
- Volume
- 44
- Category
- Article
- ISSN
- 0364-5134
No coin nor oath required. For personal study only.
📜 SIMILAR VOLUMES
## Abstract We describe a large family with a primary focal dystonia from a small Dutch village on a former island. Twenty‐four individuals spanning three generations were examined by two movement‐disorder neurologists. Two other movement‐disorder neurologists evaluated the videos independently. Su
We report on the clinical, pathological, and genetic features of 7 patients with limb-girdle muscular dystrophy type 2A (LGMD2A) from three Japanese families. The mean age of onset was 9.7 ± 3.1 years (mean ± SD), and loss of ambulance occurred at 38.5 ± 2.1 years. Muscle atrophy was predominant in