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

doi:10.1085/jgp.107.5.559

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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 my...

Topics

Animals
Cell Membrane Permeability
Cells, Cultured
Electrophysiology
Humans
Kinetics
Models, Biological
Muscle, Skeletal
Mutagenesis, Site-Directed
Mutation
Myotonia
Patch-Clamp Techniques
Phenotype
Rats
Sodium Channels
Temperature
Transfection

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