Article
Consequences of a novel caveolin-3 mutation in a large German family.
Annals of neurology - 1 Feb 2003
Fischer Dirk, Schroers Anja, Blümcke Ingmar, Urbach Horst, Zerres Klaus, Mortier Wilhelm, Vorgerd Matthias, Schröder Rolf
Abstract excerpt
Mutations in the human caveolin-3 gene (cav-3) on chromosome 3p25 have been described in limb girdle muscular dystrophy, rippling muscle disease, hyperCKemia, and distal myopathy. Here, we describe the genetic, myopathological, and clinical findings in a large German family harboring a novel heterozygous mutation (GAC-->GAA) in codon 27 of the cav-3 gene. This missense mutation causes an amino acid change from...
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