Article
[Clinical and genetical features of Japanese early-onset facioscapulohumeral muscular dystrophy].
No to hattatsu = Brain and development - 1 Jul 2002
Yamanaka Gaku, Goto Kanako, Hayashi Yukiko K, Miyajima Tasuku, Hoshika Akinori, Arahata Kiichi
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant form of muscular dystrophy characterized by progressive weakness and wasting of the facial, shoulder-girdle and upper arm muscles. The gene locus for FSHD is mapped to the subtelomeric region of chromosome 4q35, in which smaller EcoRI fragments (10 to 33 kb) are detected in most families by Southern blot analysis. The purpose of this study is...
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