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Title
Myotonia associated with caveolin-3 mutation.
Authors
Milone, Margherita; McEvoy, Kathleen M; Sorenson, Eric J; Daube, Jasper R
Abstract
Caveolin-3 is a major component of the caveolae in skeletal and cardiac muscle. Mutations in the caveolin-3 gene (CAV3) lead to a spectrum of clinical phenotypes including limb-girdle muscular dystrophy 1C, distal myopathy, rippling muscle disease, isolated hyperCKemia, and cardiomyopathy.