Characterization of two new dominant ClC-1 channel mutations associated with myotonia-Reference-Cited by-同舟云学术

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Characterization of two new dominant ClC-1 channel mutations associated with myotonia

Published:2003-10-15 Issue:6 Volume:28 Page:722-732
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Grunnet Morten,Jespersen Thomas,Colding-Jørgensen Eskild,Schwartz Marianne,Klaerke Dan A.,Vissing John,Olesen Søren-Peter,Dunø Morten

Funder

Danish National Research Foundation

Harald Jensens and Hustrus Foundation

Danish Medical Research Council

The Novo Nordisk Foundation

The Carlsberg Foundation

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Reference41 articles.

1. Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S;Accardi;J Physiol (Lond),2001

2. Fast and slow gating of CLC-1: differential effects of 2-(4-chlorophenoxy) propionic acid and dominant negative mutations;Aromataris;Mol Pharmacol,2001

3. Myotonia. An evaluation of the chloride hypothesis;Barchi;Arch Neurol,1975

4. Muscle chloride channels;Bretag;Physiol Rev,1987

5. Chloride conductance in normal and myotonic muscle fibres and the action of monocarboxylic aromatic acids;Bryant;J Physiol (Lond),1971

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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. An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies;Frontiers in Neurology;2020-01-17

3. CLC Chloride Channels and Transporters: Structure, Function, Physiology, and Disease;Physiological Reviews;2018-07-01

4. Genetic Muscle Disorders;Smith's Anesthesia for Infants and Children;2017

5. Characterization of the TRPC3 Gene in Myotonic Goats: Further Insight Into Myotonia congenita and Muscular Dystrophy;Journal of Molecular Biology Research;2014-09-22

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