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...

Descripción completa

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

Internet

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

Ejemplares similares