Article
Efforts toward understanding the molecular basis of facioscapulohumeral muscular dystrophy.
Muscle & nerve. Supplement - 1 Jan 1995
Altherr M R, Bengtsson U, Markovich R P, Winokur S T
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is an autosomal dominant disorder with a frequency of 1 in 20,000. The report in 1992 of a DNA polymorphism that occurred both in familial and sporadic cases led to the pronouncement that the FSHD defect had been identified. Unfortunately, 2 years have passed without the isolation of a gene or definitive proof of the mutation. Over this time it has become clear that...
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