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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

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