Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation

OBJECTIVE: We performed a clinical, functional, and pharmacologic characterization of the novel p.P1158L Nav1.4 mutation identified in a young girl presenting a severe myotonic phenotype. METHODS: Wild-type hNav1.4 channel and P1158L mutant were expressed in tsA201 cells for functional and pharmacol...

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Detalles Bibliográficos
Autores principales: Desaphy, Jean-François, Carbonara, Roberta, D'Amico, Adele, Modoni, Anna, Roussel, Julien, Imbrici, Paola, Pagliarani, Serena, Lucchiari, Sabrina, Lo Monaco, Mauro, Conte Camerino, Diana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2016
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891212/
https://www.ncbi.nlm.nih.gov/pubmed/27164696
http://dx.doi.org/10.1212/WNL.0000000000002721

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4891212/
https://www.ncbi.nlm.nih.gov/pubmed/27164696
http://dx.doi.org/10.1212/WNL.0000000000002721

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