Article
A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
Neurology - 18 Nov 2008
Petitprez S, Tiab L, Chen L, Kappeler L, Rösler K M, Schorderet D, Abriel H, Burgunder J-M
Abstract excerpt
BACKGROUND: Mutations in SCN4A may lead to myotonia. METHODS: Presentation of a large family with myotonia, including molecular studies and patch clamp experiments using human embryonic kidney 293 cells expressing wild-type and mutated channels. RESULTS: In a large family with historic data on seven generations and a clear phenotype, including myotonia at movement onset, with worsening by cold temperature,...
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