Epigenetic mechanisms of facioscapulohumeral muscular dystrophy
JC de Greef, RR Frants, SM van der Maarel - … Research/Fundamental and …, 2008 - Elsevier
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.
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.