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  • Title: Epigenetic mechanisms of facioscapulohumeral muscular dystrophy.
    Author: de Greef JC, Frants RR, van der Maarel SM.
    Journal: Mutat Res; 2008 Dec 01; 647(1-2):94-102. PubMed ID: 18723032.
    Abstract:
    Facioscapulohumeral muscular dystrophy (FSHD) seems to be caused by a complex epigenetic disease mechanism as a result of contraction of the polymorphic macrosatellite repeat D4Z4 on chromosome 4qter. Currently, the exact mechanism causing the FSHD phenotype is still not elucidated. In this review, we discuss the genetic and epigenetic changes observed in patients with FSHD and the possible disease mechanisms that may be associated with FSHD pathogenesis.
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