Abstract:

Mutations of genes encoding the calcium, sodium, chloride, and potassium channels of human skeletal muscles can result in two skeletal muscle ion channelopathies, i.e. the periodic paralyses and nondystrophic myotonias. Periodic paralyses include hyper and hypokalemic periodic paralysis, thyrotoxichypokalaemic periodic paralysis, and Andersen-Tawil syndrome. The nondystrophic myotonias involve myotoniacongenita, paramyotoniacongenita, and sodiumchannel myotonias. Hereditary factor is one of important reasons leading to skeletal muscle ion channelopathies. Molecular genetic studies have found 7 related disease-causing genes, including SCN4A, CACNA1S, KCNJ2, KCNJ5,CLCN1, KCNJ18, and KCNE3. This paper reviews research advances of clinical characteristics and disease-causing genes of skeletal muscle ion channelopathies.

Key words: skeletal muscle channelopathies, periodic paralysis, myotonia