Article
[Facioscapulohumeral muscular dystrophy (FSHD)].
Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997
Funakoshi M, Goto K, Kim B Y, Arahata K
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD; MIM 158900) is one of the major forms of muscular dystrophy, and is inherited in an autosomal dominant fashion. In most patients with FSHD, deletion of 3.3 kb tandemly repeated units within the EcoRI fragment, as detected by p13E-11 (D4F104S1) on chromosome 4q35, is associated with the disease (FSHD1A or 4q35-FSHD). Rare (< 5%) 4q35-unlinked FSHD (FSHD1B) is also...
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