Early onset facioscapulohumeral muscular
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Dr. Oebele F. Brouwer; Dr. George W. Padberg; Dr. Egbert Bakker; Dr. Cisca Wijme
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Article
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1995
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John Wiley and Sons
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English
โ 630 KB
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