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Review
. 2009 Jan;19(1):17-20.
doi: 10.1016/j.nmd.2008.09.004. Epub 2008 Oct 29.

Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy

Petr Dmitriev  1 , Marc Lipinski, Yegor S Vassetzky
Affiliations
Review

Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy

Petr Dmitriev et al. Neuromuscul Disord. 2009 Jan.

Abstract

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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