Myotonic Myopathy With Secondary Joint and Skeletal Anomalies From the c.2386C>G, p.L796V Mutation in SCN4A-Reference-Cited by-同舟云学术

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

Published:2020-02-13 Issue: Volume:11 Page:
ISSN:1664-2295
Container-title:Frontiers in Neurology
language:
Short-container-title:Front. Neurol.

Author:

Elia Nathaniel,Nault Trystan,McMillan Hugh J.,Graham Gail E.,Huang Lijia,Cannon Stephen C.

Funder

National Institutes of Health

Genome Canada

Canadian Institutes of Health Research

Ontario Genomics Institute

Ontario Research Foundation

Children's Hosptial of Eastern Ontario Foundation

Publisher

Frontiers Media SA

Subject

Clinical Neurology,Neurology

Reference27 articles.

1. Channelopathies of skeletal muscle excitability;Cannon;Compr Physiol.,2015

2. Phenotypic variability in childhood of skeletal muscle sodium channelopathies;Yoshinaga;Pediatr Neurol.,2015

3. Sodium channelopathies of skeletal muscle;Cannon;Handb Exp Pharmacol.,2018

4. Predominantly myalgic phenotype caused by the c.3466G>A p.A1156T mutation in SCN4A gene;Palmio;Neurology.,2017

5. Severe neonatal episodic laryngospasm due to de novo SCN4A mutations: a new treatable disorder;Lion-Francois;Neurology.,2010

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2. Care Recommendations for the Investigation and Management of Children With Skeletal Muscle Channelopathies;Pediatric Neurology;2023-08

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4. Case report: Novel SCN4A variant associated with a severe congenital myasthenic syndrome/myopathy phenotype;Frontiers in Pediatrics;2022-08-26

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