Article
Complete allele information in the diagnosis of facioscapulohumeral muscular dystrophy by triple DNA analysis.
Annals of neurology - 1 Dec 2001
Lemmers RJL, de Kievit P, van Geel M, van der Wielen M J, Bakker E, Padberg G W, Frants R R, van der Maarel S M
Abstract excerpt
Facioscapulohumeral muscular dystrophy is caused by partial deletion of the D4Z4 repeat array on chromosome 4q35. Genetic diagnosis is based on sizing of this repeat array, which is complicated by cross-hybridization of a homologous polymorphic repeat array on chromosome 10 and by the frequent exchanges between these chromosomal regions. The restriction enzyme XapI optimizes the diagnosis of facioscapulohumeral...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.