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

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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Bibliographic Details
Main Authors: Nathaniel Elia, Trystan Nault, Hugh J. McMillan, Gail E. Graham, Lijia Huang, Stephen C. Cannon
Format: Article
Language:English
Published: Frontiers Media S.A. 2020-02-01
Series:Frontiers in Neurology
Subjects:
skeletal muscle
channelopathy
sodium channel
NaV1.4
myotonia
voltage-clamp
Online Access:https://www.frontiersin.org/article/10.3389/fneur.2020.00077/full

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