Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.

1. Three mutations at the same site in the inactivation gate of the alpha-subunit of the human muscle Na+ channel, G1306E, G1306V and G1306A, cause three phenotypes of K(+)-aggravated myotonia: G1306E as the most severe and G1306A as the most benign form. 2. Recombinant wildtype (WT) and mutant (G13...

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Bibliographic Details
Main Authors: Mitrović, N, George, A L, Lerche, H, Wagner, S, Fahlke, C, Lehmann-Horn, F
Format: Artigo
Language:Inglês
Published: 1995
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Research Article
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC1156602/
https://ncbi.nlm.nih.gov/pubmed/7473241
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