Skeletal Muscle Channelopathies

被引：5

作者：

Vivekanandam, Vinojini ^{[1
,2
]}

Munot, Pinki ^{[3
]}

Hanna, Michael G. ^{[1
,2
]}

Matthews, Emma ^{[1
,2
]}

机构：

[1] UCL Queen Sq Inst Neurol, Queen Sq Ctr Neuromuscular Dis, Dept Neuromuscular Dis, London WC1N 3BG, England

[2] Natl Hosp Neurol & Neurosurg, Queen Sq Ctr Neuromuscular Dis, Dept Neuromuscular Dis, London WC1N 3BG, England

[3] Great Ormond St Hosp Sick Children, Dubowitz Neuromuscular Ctr, London, England

来源：

NEUROLOGIC CLINICS | 2020年 / 38卷 / 03期

基金：

英国医学研究理事会;

关键词：

Myotonia; Myotonia congenita; Paramyotonia congenita; Periodic paralysis; Channelopathies; PERIODIC PARALYSIS; CLCN1; MUTATIONS; DIAGNOSIS; PATHOGENESIS; GENE;

D O I：

10.1016/j.ncl.2020.04.003

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Skeletal muscle channelopathies are rare genetic neuromuscular conditions that include the nondystrophic myotonias and periodic paralyses. They cause disabling muscle symptoms and can limit educational potential, work opportunities, socialization, and quality of life. Effective therapy is available, making it essential to recognize and treat this group of disorders. Here, the authors highlight important aspects regarding diagnosis and management using illustrative case reports. © 2020 Elsevier Inc.

引用

页码：481 / 491

页数：11

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