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Early onset facioscapulohumeral muscular dystrophy

✍ Scribed by Dr. Oebele F. Brouwer; Dr. George W. Padberg; Dr. Egbert Bakker; Dr. Cisca Wijmenga; Dr. Rune R. Frants

Publisher: John Wiley and Sons
Year: 1995
Tongue: English
Weight: 630 KB
Volume: 18
Category: Article
ISSN: 0148-639X
DOI: 10.1002/mus.880181313

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✦ Synopsis

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 p13E-11 was performed which showed an abnormal EcoRl fragment (13-22 kb) in 6 of them. We conclude that early onset FSHD does not differ from regular FSHD clinically or genetically. However, the precise mechanisms involved in the extensive clinical variability of the disease are still unknown.

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