So far, more than 40 pathogenic CAV3 mutations have been described which are localized within different protein domains (Fig. 1b) and are leading to different disease phenotypes including Limb Girdle Muscular dystrophy (LGMD), rippling muscle disease (RMD), distal myopathy (DM), hyperCKemia (HCK) and myalgia [1, 4]. Here, CAV3 is linked to limb-girdle muscular dystrophy.