Sodium channel mutations in paramyotonia congenita exhibit similar biophysical phenotypes in vitro.

Mutations in the skeletal muscle voltage-gated Na+ channel alpha-subunit have been found in patients with two distinct hereditary disorders of sarcolemmal excitation: hyperkalemic periodic paralysis (HYPP) and paramyotonia congenita (PC). Six of these mutations have been functionally expressed in a...

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Detalhes bibliográficos

Publicado no:	Proc Natl Acad Sci U S A
Principais autores:	Yang, N, Ji, S, Zhou, M, Ptácek, L J, Barchi, R L, Horn, R, George, A L
Formato:	Artigo
Idioma:	Inglês
Publicado em:	National Academy of Sciences 1994
Assuntos:	Research Article
Acesso em linha:	https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC45524/ https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/7809121/ https://ncbi.nlm.nih.govhttps://doi.org/10.1073/pnas.91.26.12785
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