Article
Caveolin-3 null mice show a loss of caveolae, changes in the microdomain distribution of the dystrophin-glycoprotein complex, and t-tubule abnormalities.
The Journal of biological chemistry - 15 Jun 2001
Galbiati F, Engelman J A, Volonte D, Zhang X L, Minetti C, Li M, Hou H, Kneitz B, Edelmann W, Lisanti M P
Abstract excerpt
Caveolin-3, a muscle-specific caveolin-related protein, is the principal structural protein of caveolae membrane domains in striated muscle cells. Recently, we identified a novel autosomal dominant form of limb-girdle muscular dystrophy (LGMD-1C) in humans that is due to mutations within the coding sequence of the human caveolin-3 gene (3p25). These LGMD-1C mutations lead to an approximately 95% reduction in...
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