Article
Characterization of two new dominant ClC-1 channel mutations associated with myotonia.
Muscle & nerve - 1 Dec 2003
Grunnet Morten, Jespersen Thomas, Colding-Jørgensen Eskild, Schwartz Marianne, Klaerke Dan A, Vissing John, Olesen Søren-Peter, Dunø Morten
Abstract excerpt
Voltage-gated ClC-1 chloride channels encoded by the CLCN1 gene have a major role in setting the membrane potential in skeletal muscle. More than 60 CLCN1 mutations have been associated with myotonia congenita. These mutations are traditionally classified as recessive (Becker's disease) or dominant (Thomsen's disease). In this study, we have electrophysiologically characterized two new dominant ClC-1 mutations,...
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