Myotonia caused by mutations in the muscle chloride channel geneCLCN1
Author:
Publisher
Wiley
Subject
Genetics(clinical),Genetics
Reference73 articles.
1. Fast and Slow Gating Relaxations in the Muscle Chloride Channel Clc-1
2. Modulation of the gating of ClC-1 by S-(-) 2-(4-chlorophenoxy) propionic acid
3. Fast and Slow Gating of CLC-1: Differential Effects of 2-(4-Chlorophenoxy) Propionic Acid and Dominant Negative Mutations
4. Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita
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1. Characterization of ClC‐1 chloride channels in zebrafish: a new model to study myotonia;The Journal of Physiology;2024-07-19
2. Structural basis of pH-dependent activation in a CLC transporter;Nature Structural & Molecular Biology;2024-01-26
3. Inherited myotonias;Handbook of Clinical Neurology;2024
4. ClC-1 Chloride Channel: Inputs on the Structure–Function Relationship of Myotonia Congenita-Causing Mutations;Biomedicines;2023-09-24
5. Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rare CLCN1 variant c.1667T>A (p.I556N) in a Malaysian family;Frontiers in Genetics;2023-01-03
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