Molecular basis of facioscapulohumeral muscular dystrophy
β Scribed by R. Tupler; D. Gabellini
- Publisher
- Springer
- Year
- 2004
- Tongue
- English
- Weight
- 286 KB
- Volume
- 61
- Category
- Article
- ISSN
- 1420-682X
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π SIMILAR VOLUMES
Facioscapulohumeral muscular dystrophy (FSHD), a dominantly inherited disorder, is the third most common dystrophy after Duchenne and myotonic muscular dystrophy. No known effective treatments exist for FSHD. The lack of an understanding of the underlying pathophysiology remains an obstacle in the d
We report 10 patients (5 familial, 5 sporadic) with facioscapulohumeral muscular dystrophy (FSHD) with onset of facial and shoulder girdle weakness in early infancy. They showed the same broad range of clinical signs and symptoms as can be seen normally in FSHD. In 7 patients Southern blotting with