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Title: Pearls in the junk: dissecting the molecular pathogenesis of facioscapulohumeral muscular dystrophy. Author: Dmitriev P, Lipinski M, Vassetzky YS. Journal: Neuromuscul Disord; 2009 Jan; 19(1):17-20. PubMed ID: 18974002. 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.[Abstract] [Full Text] [Related] [New Search]