Skeletal muscle channelopathies.
Ion channelopathies have common clinical features, recurrent patterns of mutations, and almost predictable mechanisms of pathogenesis. In skeletal muscle, disorders are associated with mutations in voltage-gated Na(+), K(+), Ca(2+), and Cl(-) channels leading to hypoexcitability, causing periodic paralysis and to hyperexcitabilty, resulting in myotonia or susceptibility to malignant hyperthermia.
Jurkat-Rott
Karin
K
Department of Applied Physiology, University of Ulm, 89069 Ulm, Germany.
Lerche
Holger
H
Lehmann-Horn
Frank
F
D006801:Humans; D007473:Ion Channels / Q000235:genetics / Q000378:metabolism*; D008305:Malignant Hyperthermia / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D018482:Muscle, Skeletal / Q000294:innervation / Q000378:metabolism* / Q000503:physiopathology; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism* / Q000503:physiopathology; D009154:Mutation / Q000235:genetics; D009222:Myotonia / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D020513:Paralysis, Hyperkalemic Periodic / Q000235:genetics / Q000378:metabolism / Q000503:physiopathology; D012508:Sarcolemma / Q000235:genetics / Q000378:metabolism*
D007473:Ion Channels