Article
Sodium channel mutations in paramyotonia congenita uncouple inactivation from activation.
Neuron - 1 Feb 1994
Chahine M, George A L, Zhou M, Ji S, Sun W, Barchi R L, Horn R
Abstract excerpt
Mutations in the adult human skeletal muscle Na+ channel alpha subunit cause the disease paramyotonia congenita. Two paramyotonia congenita mutations, R1448H and R1448C, substitute histidine and cysteine for arginine in the S4 segment of domain 4. These mutations, expressed in a cell line, have only small effects on the activation of Na+ currents, but mutant channels inactivate more slowly with less voltage...
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