Congenital myopathies

The sarcolemmal voltage-gated L-type Ca2+ channel (CaV1.1), also known as the dihydropyridine receptor (DHPR), is encoded by CACNA1S and localized in the T-tubule. During skeletal muscle excitation-contraction coupling (ECC), CaV1.1 activated by membrane depolarizations triggers opening of the sarcoplasmic Ca2+ release channel (RyR1) to release Ca2+ for myofibril contraction. Recently, both recessive and dominant CACNA1S mutations are identified as a cause of a novel congenital myopathy with alternations in calcium homeostasis and impaired ECC.

Source: Neuromuscular Disorders - September 19, 2021 Category: Neurology Authors: Y. Endo, E. Pannia, S. Wang, L. Groom, R. Dirksen, J. Dowling Source Type: research