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Clinical comparison and functional study of the L703P: a recurrent mutation in human SCN4A that causes sodium channel myotonia

  • Published:2022-10 Issue:10 Volume:32 Page:811-819
  • ISSN:0960-8966
  • Container-title:Neuromuscular Disorders
  • language:en
  • Short-container-title:Neuromuscular Disorders

Author:

Ke Qing,Zhao Youcheng,Li Yuezhou,Ye Jia,Tang Siyang,He Fangping,Ji Fang,Dai Xuejiao,Ni Jie,Li Yi,Griggs Robert C.,Cheng Xiaoyang

Funder

National Natural Science Foundation of China

Ministry of Science and Technology of the People's Republic of China

Natural Science Foundation of Zhejiang Province

Zhejiang University

National Key Research and Development Program of China

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference30 articles.

1. Targeted therapies for skeletal muscle ion channelopathies: systematic review and steps towards precision medicine;Desaphy;J Neuromuscul,2021

2. An up-to-date overview of the complexity of genotype-phenotype relationships in myotonic channelopathies;Morales;Front Neurol,2020

3. Prevalence study of genetically defined skeletal muscle channelopathies in England;Horga;Neurology,2013

4. Skeletal muscle channelopathies: a guide to diagnosis and management;Matthews;Pract Neurol,2021

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

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