Article
myotilin Mutation found in second pedigree with LGMD1A.
American journal of human genetics - 1 Dec 2002
Hauser Michael A, Conde Cecilia B, Kowaljow Valeria, Zeppa Guillermo, Taratuto Ana L, Torian Udana M, Vance Jeffery, Pericak-Vance Margaret A, Speer Marcy C, Rosa Alberto L
Abstract excerpt
Limb-girdle muscular dystrophy 1A (LGMD1A [MIM 159000]) is an autosomal dominant form of muscular dystrophy characterized by adult onset of proximal weakness progressing to distal muscle weakness. We have reported elsewhere a mutation in the myotilin gene in a large, North American family of German descent. Here, we report the mutation screening of an additional 86 families with a variety of neuromuscular...
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