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...

Täydet tiedot

Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Sci Rep
Päätekijät: Binda, Anna, Renna, Laura V., Bosè, Francesca, Brigonzi, Elisa, Botta, Annalisa, Valaperta, Rea, Fossati, Barbara, Rivolta, Ilaria, Meola, Giovanni, Cardani, Rosanna
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2018
Aiheet:
Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC6056531/
https://ncbi.nlm.nih.gov/pubmed/30038349
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41598-018-29302-z
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