Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes
Open Access
- 31 October 2013
- journal article
- Published by Elsevier BV in Experimental Neurology
- Vol. 248, 530-540
- https://doi.org/10.1016/j.expneurol.2013.07.018
Abstract
No abstract availableKeywords
Funding Information
- Comitato Telethon Fondazione Onlus (GGP10101)
- Association Française contre les Myopathies (15020)
This publication has 32 references indexed in Scilit:
- Myotonia Congenita Mutation Enhances the Degradation of Human CLC-1 Chloride ChannelsPLOS ONE, 2013
- Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategyEuropean Journal of Clinical Pharmacology, 2012
- Mexiletine for Symptoms and Signs of Myotonia in Nondystrophic MyotoniaJama-Journal Of The American Medical Association, 2012
- Myotonia congenita in a large consanguineous Arab family: Insight into the clinical spectrum of carriers and double heterozygotes of a novel mutation in the chloride channel CLCN1 geneMuscle & Nerve, 2009
- Redefining the clinical phenotypes of non-dystrophic myotonic syndromesJournal of Neurology, Neurosurgery & Psychiatry, 2009
- Discovery of Potent CLC Chloride Channel InhibitorsACS Chemical Biology, 2008
- Molecular switch for CLC-K Cl − channel block/activation: Optimal pharmacophoric requirements towards high-affinity ligandsProceedings of the National Academy of Sciences of the United States of America, 2008
- F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle‐specific chloride channel CLC‐1Muscle & Nerve, 2007
- Sour on the inside, calm on the outside: How acetazolamide may stabilize membrane excitabilityMuscle & Nerve, 2006
- Acetazolamide acts directly on the human skeletal muscle chloride channelMuscle & Nerve, 2006