Article
Molecular diagnosis of facioscapulohumeral muscular dystrophy.
Expert review of molecular diagnostics - 1 Mar 2002
Upadhyaya Meena, Cooper David N
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is the third most common inherited neuromuscular disorder after Duchenne muscular dystrophy and myotonic dystrophy. The gene underlying FSHD was mapped to chromosome 4q35 in 1990 and was shown to be closely linked to locus D4F104S1. Although D4F104S1-associated deletions are closely associated with FSHD, the identity and location of the FSHD gene (or genes) still...
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