title: Skeletal muscle channelopathies.
abstract: 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.
authors.affiliation: Department of Applied Physiology, University of Ulm, 89069 Ulm, Germany.
authors.forename: Karin
authors.initials: K
authors.lastname: Jurkat-Rott
authors.forename: Holger
authors.initials: H
authors.lastname: Lerche
authors.forename: Frank
authors.initials: F
authors.lastname: Lehmann-Horn
mesh_terms: 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*
chemical_list: D007473:Ion Channels