Substitutions of the S4DIV R2 residue (R1451) in Na(V)1.4 lead to complex forms of paramyotonia congenita and periodic paralyses

Mutations in Na(V)1.4, the skeletal muscle voltage-gated Na(+) channel, underlie several skeletal muscle channelopathies. We report here the functional characterization of two substitutions targeting the R1451 residue and resulting in 3 distinct clinical phenotypes. The R1451L is a novel pathogenic...

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Detalles Bibliográficos
Autores principales: Poulin, Hugo, Gosselin-Badaroudine, Pascal, Vicart, Savine, Habbout, Karima, Sternberg, Damien, Giuliano, Serena, Fontaine, Bertrand, Bendahhou, Saïd, Nicole, Sophie, Chahine, Mohamed
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794747/
https://www.ncbi.nlm.nih.gov/pubmed/29391559
http://dx.doi.org/10.1038/s41598-018-20468-0

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5794747/
https://www.ncbi.nlm.nih.gov/pubmed/29391559
http://dx.doi.org/10.1038/s41598-018-20468-0

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