Article
Myotilin is mutated in limb girdle muscular dystrophy 1A.
Human molecular genetics - 1 Sept 2000
Hauser M A, Horrigan S K, Salmikangas P, Torian U M, Viles K D, Dancel R, Tim R W, Taivainen A, Bartoloni L, Gilchrist J M, Stajich J M, Gaskell P C, Gilbert J R, Vance J M, Pericak-Vance M A, Carpen O, Westbrook C A, Speer M C
Abstract excerpt
We have identified a mutation in the myotilin gene in a large North American family of German descent expressing an autosomal dominant form of limb girdle muscular dystrophy (LGMD1A). We have previously mapped this gene to 5q31. Symptoms of this adult onset disease are progressive weakness of the hip and shoulder girdles, as well as a distinctive dysarthric pattern of speech. Muscle of affected individuals shows...
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