ABSTRACT
Caveolin-3 is the principal structural protein component of caveolae membrane domains in skeletal muscle cells. Caveolae are plasma membrane invaginations implicated in the regulation of signal transduction events. The roles that caveolin-3 plays in skeletal muscle cell physiology are becoming more apparent. Several mutations within the human caveolin-3 gene have been identified over the last few years. These mutations are responsible for different forms of muscle diseases, including limb-girdle muscular dystrophy type 1C (LGMD-1C), hyperCKemia (HCK), distal myopathy (DM), and rippling muscle disease (RMD). In this chapter, we will discuss the functional significance of these caveolin-3 mutations in humans.
