Skeletal muscle CaV1.1 channelopathies

Ca V 1.1 is specifically expressed in skeletal muscle where it functions as voltage sensor of skeletal muscle excitation-contraction (EC) coupling independently of its functions as L-type calcium channel. Consequently, all known Ca V 1.1-related diseases are muscle diseases and the molecular and cellular disease mechanisms relate to the dual functions of Ca V 1.1 in this tissue. To date, four types of muscle diseases are known that can be linked...