Article
Hypomethylation of D4Z4 in 4q-linked and non-4q-linked facioscapulohumeral muscular dystrophy.
Nature genetics - 1 Dec 2003
van Overveld Petra G M, Lemmers Richard J F L, Sandkuijl Lodewijk A, Enthoven Leo, Winokur Sara T, Bakels Floor, Padberg George W, van Ommen Gert-Jan B, Frants Rune R, van der Maarel Silvère M
Abstract excerpt
The autosomal dominant myopathy facioscapulohumeral muscular dystrophy (FSHD1, OMIM 158900) is caused by contraction of the D4Z4 repeat array on 4qter. We show that this contraction causes marked hypomethylation of the contracted D4Z4 allele in individuals with FSHD1. Individuals with phenotypic FSHD1, who are clinically identical to FSHD1 but have an unaltered D4Z4, also have hypomethylation of D4Z4. These...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.