Molecular pathogenesis of caveolin-3-related limb-girdle muscular dystrophy


Caveolin-3 is a muscle-specific protein involved in caveolae-formation, signal transduction, lipid metabolism, cell growth, mechanoprotection and apoptotic cell death. The protein, localized to the sarcolemma, usually appears during the myoblastic differentiation and interacts with the dystroglycan complex. Diseases caused by mutations in the CAV3 gene are called Caveolinopathies. To date, more than 40 pathogenic nonsynonimous CAV3 mutations have been described leading different disease phenotypes, such as Limb-girdle muscular dystrophy (LGMD), rippling muscle disease (RMD), distal myopathy (DM) and hyperCKemia (HCK).


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