Article
Variable hypomethylation of D4Z4 in facioscapulohumeral muscular dystrophy.
Annals of neurology - 1 Oct 2005
van Overveld Petra G M, Enthoven Leo, Ricci Enzo, Rossi Monica, Felicetti Luciano, Jeanpierre Marc, Winokur Sara T, Frants Rune R, Padberg George W, van der Maarel Silvère M
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) progressively affects the facial, shoulder, and upper arm muscles and is associated with contractions of the polymorphic D4Z4 repeat array in 4q35. Recently, we demonstrated that FSHD alleles are hypomethylated at D4Z4. To study potential relationships between D4Z4 hypomethylation and both residual repeat size and clinical severity, we compared the clinical severity...
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