Article
Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans.
The Journal of physiology - 15 Jul 1999
Bendahhou S, Cummins T R, Kwiecinski H, Waxman S G, Ptácek L J
Abstract excerpt
1. Paramyotonia congenita is a temperature-sensitive skeletal muscle disorder caused by missense mutations that occur in the adult skeletal muscle voltage-gated sodium channel. We report here the identification of a new genetic mutation in a family with the paramyotonia congenita phenotype. 2. Single-strand conformation polymorphism analysis and DNA sequencing showed that the defect was linked to a single...
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