8.A.26.1.7
A CAV3 microdeletion differentially affects skeletal muscle and the myocardium. Intrafamilial phenotypic heterogeneity is associated with caveolin-3 Phe97 microdeletion. The molecular network interacting with caveolin-3 in skeletal muscle and heart may differ (Cagliani et al. 2003). It may act as a scaffolding protein within caveolar membranes and interacts directly with G-protein alpha subunits and can functionally regulate their activity. It may also regulate voltage-gated potassium channels. It plays a role in the sarcolemma repair mechanism of both skeletal muscle and cardiomyocytes that permits rapid resealing of membranes disrupted by mechanical stress. It mediates the recruitment of CAVIN2 and CAVIN3 proteins to the caveolae (McMahon et al. 2009).