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Facioscapulohumeral muscular dystrophy

✍ Scribed by Silvère M. van der Maarel; Rune R. Frants; George W. Padberg

Book ID: 116270478
Publisher: Elsevier Science
Year: 2007
Tongue: English
Weight: 221 KB
Volume: 1772
Category: Article
ISSN: 0925-4439
DOI: 10.1016/j.bbadis.2006.05.009

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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