Sodium Channel Myotonia Due to Novel Mutations in Domain I of Na(v)1.4

Sodium channel myotonia is a form of muscle channelopathy due to mutations that affect the Na(v)1.4 channel. We describe seven families with a series of symptoms ranging from asymptomatic to clearly myotonic signs that have in common two novel mutations, p.Ile215Thr and p.Gly241Val, in the first dom...

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Détails bibliographiques
Publié dans:Front Neurol
Auteurs principaux: Pagliarani, Serena, Lucchiari, Sabrina, Scarlato, Marina, Redaelli, Elisa, Modoni, Anna, Magri, Francesca, Fossati, Barbara, Previtali, Stefano C., Sansone, Valeria A., Lecchi, Marzia, Lo Monaco, Mauro, Meola, Giovanni, Comi, Giacomo P.
Format: Artigo
Langue:Inglês
Publié: Frontiers Media S.A. 2020
Sujets:
Neurology
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC7201054/
https://ncbi.nlm.nih.gov/pubmed/32411069
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.00255
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