Article
Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel.
Neuron - 1 Dec 1995
Pusch M, Steinmeyer K, Koch M C, Jentsch T J
Abstract excerpt
Autosomal dominant myotonia congenita (Thomsen's disease) is caused by mutations in the muscle chloride channel CIC-1. Several point mutations found in affected families (I29OM, R317Q, P480L, and Q552R) dramatically shift gating to positive voltages in mutant/WT heterooligomeric channels, and when measurable, even more so in mutant homooligomers. These channels can no longer contribute to the repolarization of...
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