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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...

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Detalhes bibliográficos
Formato: Artigo
Idioma:Inglês
Publicado em: The Rockefeller University Press 1996
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Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC2217015/
https://ncbi.nlm.nih.gov/pubmed/8740371
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