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Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy

✍ Scribed by Lawrence Korngut; Victoria M. Siu; Shannon L. Venance; Simon Levin; Peter Ray; Richard J.L.F. Lemmers; Julia Keith; Craig Campbell

Book ID
116793388
Publisher
Elsevier Science
Year
2008
Tongue
English
Weight
486 KB
Volume
18
Category
Article
ISSN
0960-8966

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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