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Article

Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker.

The Journal of general physiology - 1 May 1996

Hayward L J, Brown R H, Cannon S C

Abstract excerpt

Missense mutations in the skeletal muscle Na+ channel alpha subunit occur in several heritable forms of myotonia and periodic paralysis. Distinct phenotypes arise from mutations at two sites within the III-IV cytoplasmic loop: myotonia without weakness due to substitutions at glycine 1306, and myotonia plus weakness caused by a mutation at threonine 1313. Heterologous expression in HEK cells showed that...

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Identifiers

PMID: 8740371
DOI: 10.1085/jgp.107.5.559
PMCID: PMC2217015

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