Article
Somatic mosaicism in FSHD often goes undetected.
Annals of neurology - 1 Jun 2004
Lemmers Richard J L F, van der Wielen Michiel J R, Bakker Egbert, Padberg George W, Frants Rune R, van der Maarel Silvère M
Abstract excerpt
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD1A) is associated with contractions of the polymorphic D4Z4 repeat array on chromosome 4qter. The disease has a high frequency of new mutations of mitotic origin. Pulsed-field gel electrophoresis-based studies show that mitotic mutations leading to somatic mosaicism occur equally frequently in patients and parents. Nevertheless, somatic mosaicism in...
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