Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A

The phenotypic spectrum associated with the skeletal muscle voltage-gated sodium channel gene (SCN4A) has expanded with advancements in genetic testing. Autosomal dominant SCN4A mutations were first linked to hyperkalemic periodic paralysis, then subsequently included paramyotonia congenita, several...

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Detalles Bibliográficos
Autores principales: Elia, Nathaniel, Nault, Trystan, McMillan, Hugh J., Graham, Gail E., Huang, Lijia, Cannon, Stephen C.
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/PMC7031655/
https://www.ncbi.nlm.nih.gov/pubmed/32117035
http://dx.doi.org/10.3389/fneur.2020.00077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7031655/
https://www.ncbi.nlm.nih.gov/pubmed/32117035
http://dx.doi.org/10.3389/fneur.2020.00077

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