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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7201054/
https://www.ncbi.nlm.nih.gov/pubmed/32411069
http://dx.doi.org/10.3389/fneur.2020.00255

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