Human muscle voltage-gated ion channels and hereditary disease.
Insights in the field of ion channels were made possible by the Nobel-prize-winning patch-clamp technique that enables characterization of channel function, and have greatly been inspired by associated diseases pointing to regions of functional significance. These so-called 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 Na+, K+, Ca2+, and Cl- channels that lead to hypoexcitability (causing periodic paralysis) and to hyperexcitabilty (causing myotonia or susceptibility to malignant hyperthermia).
Jurkat-Rott
K
K
Department of Applied Physiology, Ulm University, Germany. karin.jurkat-rott@medizin.uni-ulm.de
Lehmann-Horn
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F
D000818:Animals; D004594:Electrophysiology; D030342:Genetic Diseases, Inborn / Q000503:physiopathology*; D006801:Humans; D015640:Ion Channel Gating / Q000502:physiology*; D007473:Ion Channels / Q000737:chemistry / Q000502:physiology*; D018482:Muscle, Skeletal / Q000503:physiopathology
D007473:Ion Channels