Epigenetic mechanisms of facioscapulohumeral muscular dystrophy
Jessica C de Greef, Rune R Frants, Silvère M van der Maarel, Jessica C de Greef, Rune R Frants, Silvère M van der Maarel
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.
Conflict of interest statement
Conflict of Interest statement
The authors declare that there are no conflicts of interest.
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Source: PubMed