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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...
Autores principales: | , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
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 |