Article
[Progress in researches on the molecular genetics of facioscapulohumeral muscular dystrophy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Oct 2001
Su Q, Zhang C
Abstract excerpt
Facioscapulohumeral muscular dystrophy(FSHD) is an autosomal dominant neuromuscular disorder characterized by progressive weakness of the facial, shoulder and upper arm muscles. The major gene involved has been mapped to chromosome 4q35. There is the evidence for genetic heterogeneity. The FSHD- associated DNA rearrangements are due to deletions of integral copies of the 3.3 kb tandem repeated unit from the...
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