Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation
Author:
Funder
Hunan Provincial Science and Technology Department
Publisher
Public Library of Science (PLoS)
Subject
Multidisciplinary
Reference40 articles.
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2. Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride Channels;TT Lee;PLOS ONE,2013
3. Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies;P Imbrici;FASEB J,2016
4. Role of physiological ClC-1 Cl- ion channel regulation for the excitability and function of working skeletal muscle;TH Pedersen;J Gen Physiol,2016
5. Tonische Krämpfe in willkürlich beweglichen Muskeln in Folge von ererbter psychischer Disposition;J Thomsen;Arch Psychatrie Nerv,1876
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1. ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations;Biomedicines;2023-09-24
2. Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review;Channels;2022-02-16
3. Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: a case report;BMC Neurology;2022-01-07
4. Familial periodic paralysis associated with a rare KCNJ5 variant that supposed to have incomplete penetrance;Brain and Development;2021-03
5. Functional and Structural Characterization of ClC-1 and Nav1.4 Channels Resulting from CLCN1 and SCN4A Mutations Identified Alone and Coexisting in Myotonic Patients;Cells;2021-02-11
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