Fig. 1

Muscle caveolinopathies are caused by mutations of the CAV3 gene. a Subcellular localization of CAV3: the wild-type CAV3 protein localizes to the sarcolemma where it associates with components of the dystrophin-associated glycoprotein complex. CAV3 interacts directly with β-dystroglycan, nNOS and dysferlin. Moreover, CAV3 indirectly interacts with F-actin, syntrophin, dystrobrevin and laminin-2 as well as further components of the complex such as sarcoglycans and integrins. b Localization and distribution of paradigmatic CAV3 missense mutations leading to skeletal muscle phenotypes. The p.P104L mutant CAV3 protein is causative for Limb Girdle Muscular Dystrophy type 1 C. c Under physiological conditions, CAV3 is synthesized in the ER and transported through the Golgi to the sarcolemma. The missense mutant CAV3 proteins (hexagons in this carton) accumulate in the Golgi and cause ER stress and UPR activation