Review
doi: 10.1016/j.nmd.2008.09.004.
Epub 2008 Oct 29.
Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy
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- PMID: 18974002
- DOI: 10.1016/j.nmd.2008.09.004
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Review
Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy
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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