Article
A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity.
Neurology - 1 Oct 1997
Wagner S, Lerche H, Mitrovic N, Heine R, George A L, Lehmann-Horn F
Abstract excerpt
A point mutation A4078G predicting the amino acid exchange Met1360Val in segment IV/S1 of the human muscle sodium channel alpha-subunit was identified in a family presenting features of hyperkalemic periodic paralysis and paramyotonia congenita with sex-related modification of expression. In this family, only one male member is clinically affected, presenting episodes of flaccid weakness as well as paradoxical...
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