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Facioscapulohumeral muscular dystrophy (FSHD) is strongly associated with epigenetic changes of the 4q35 D4Z4 macrosatellite. FSHD pathology requires the misexpression and missplicing of the DUX4 (double homeobox 4) gene encoded within the repeat array resulting in production of a pathogenic protein, DUX4-FL. We have analyzed DUX4 mRNA and protein expression in a large collection of myogenic cells...