Article
Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy.
Neuromuscular disorders : NMD - 1 Jan 2009
Dmitriev Petr, Lipinski Marc, Vassetzky Yegor S
Abstract excerpt
Despite the discovery of the deletion on the long arm of the chromosome 4 specific for facioscapulohumeral muscular dystrophy (FSHD), the identity of the gene responsible for the disease still remains a mystery. In this review we focus on two genes, DUX4 and DUX4c, encoded by the D4Z4 repeats present in the 4q35 locus, which is affected in the disease.
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