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Article

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

The Journal of physiology - 15 Aug 1995

Mitrović N, George A L, Lerche H, Wagner S, Fahlke C, Lehmann-Horn F

Abstract excerpt

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 (G1306E, G1306V and G1306A) human Na+ channels were expressed in human embryonic kidney cells (HEK293). G1306E and...

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Identifiers

PMID: 7473241
DOI: 10.1113/jphysiol.1995.sp020864
PMCID: PMC1156602

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Different effects on gating of three myotonia-causing mutations in the inactivation gate of the human muscle sodium channel.PMID 7473241Read ↗

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