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SCN4A as modifier gene in patients with myotonic dystrophy type 2

A patient with an early severe myotonia diagnosed for Myotonic Dystrophy type 2 (DM2) was found bearing the combined effects of DM2 mutation and Nav1.4 S906T substitution. To investigate the mechanism underlying his atypical phenotype,whole-cell patch-clamp in voltage- and current-clamp mode was per...

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Detalles Bibliográficos
Autores principales:	Binda, Anna, Renna, Laura V., Bosè, Francesca, Brigonzi, Elisa, Botta, Annalisa, Valaperta, Rea, Fossati, Barbara, Rivolta, Ilaria, Meola, Giovanni, Cardani, Rosanna
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/PMC6056531/ https://www.ncbi.nlm.nih.gov/pubmed/30038349 http://dx.doi.org/10.1038/s41598-018-29302-z

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