<i>DUX4</i>, a candidate gene for facioscapulohumeral muscular dystrophy, causes p53‐dependent myopathy in vivo

Abstract excerpt

OBJECTIVE: Facioscapulohumeral muscular dystrophy (FSHD) is associated with D4Z4 repeat contraction on human chromosome 4q35. This genetic lesion does not result in complete loss or mutation of any gene. Consequently, the pathogenic mechanisms underlying FSHD have been difficult to discern. In leading FSHD pathogenesis models, D4Z4 contractions are proposed to cause epigenetic changes, which ultimately increase...

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