Caveolin-3, a muscle-specific caveolin-related protein, is the principal structural protein of
caveolae membrane domains in striated muscle cell types (cardiac and skeletal). Autosomal
dominant limb girdle muscular dystrophy (LGMD-1C) in humans is due to mutations within
the caveolin-3 gene:(i) a 9-base pair microdeletion that removes three amino acids within
the caveolin scaffolding domain (ΔTFT) or (ii) a missense mutation within the membrane
spanning domain (P→ L). The molecular mechanisms by which these two mutations cause …