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Facioscapulohumeral muscular dystrophy

✍ Scribed by Miriam Butz; M. C. Koch; W. Muller-Felber; R. J. L. F. Lemmers; S. M. van der Maarel; H. Schreiber


Publisher
Springer
Year
2003
Tongue
English
Weight
183 KB
Volume
250
Category
Article
ISSN
0340-5354

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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

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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