Here we present a series of eight patients with mutations in CAV3.

This case series broadens the phenotypic spectrum of caveolinopathies.

Exercise intolerance, myalgia and rhabdomyolysis may be caused by CAV3 mutations.

Rippling muscle contractions and PIRCs are clinical clues of caveolinopathies.

Immunoblotting may be more sensitive in detecting reduced caveolin-3 levels.