Article
Hyperkalemic periodic paralysis M1592V mutation modifies activation in human skeletal muscle Na+ channel.
The American journal of physiology - 1 Jan 1999
Rojas C V, Neely A, Velasco-Loyden G, Palma V, Kukuljan M
Abstract excerpt
Mutations in the human skeletal muscle Na+ channel underlie the autosomal dominant disease hyperkalemic periodic paralysis (HPP). Muscle fibers from affected individuals exhibit sustained Na+ currents thought to depolarize the sarcolemma and thus inactivate normal Na+ channels. We expressed human wild-type or M1592V mutant alpha-subunits with the beta1-subunit in Xenopus laevis oocytes and recorded Na+ currents...
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