Inflammatory changes in facioscapulohumeral muscular dystrophy
✍ Scribed by Maria Molnár; Peter Diószeghy; Ferenc Mechler
- Publisher
- Springer-Verlag
- Year
- 1991
- Tongue
- English
- Weight
- 819 KB
- Volume
- 241
- Category
- Article
- ISSN
- 1433-8491
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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
Extrapolating the figures from a previous study on FSHD in a province of The Netherlands to the entire Dutch population suggests that at present a nearly complete overview is obtained of all symptomatic kindred. In 139 families, dominant inheritance was observed in 97, a pattern compatible with germ