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Inactivation defects caused by myotonia-associated mutations in the sodium channel III-IV linker
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 myoto...
| Formato: | Texto |
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| Lenguaje: | English |
| Publicado: |
The Rockefeller University Press
1996
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2217015/ https://www.ncbi.nlm.nih.gov/pubmed/8740371 |