Article
De novo facioscapulohumeral muscular dystrophy: frequent somatic mosaicism, sex-dependent phenotype, and the role of mitotic transchromosomal repeat interaction between chromosomes 4 and 10.
American journal of human genetics - 1 Jan 2000
van der Maarel S M, Deidda G, Lemmers R J, van Overveld P G, van der Wielen M, Hewitt J E, Sandkuijl L, Bakker B, van Ommen G J, Padberg G W, Frants R R
Abstract excerpt
Autosomal dominant facioscapulohumeral muscular dystrophy (FSHD) is caused by deletion of most copies of the 3.3-kb subtelomeric D4Z4 repeat array on chromosome 4q. The molecular mechanisms behind the deletion and the high proportion of new mutations have remained elusive. We surveyed 35 de novo FSHD families and found somatic mosaicism in 40% of cases, in either the patient or an asymptomatic parent. Mosaic...
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