ArticleExperimental neurology2014
Nondystrophic myotonia: challenges and future directions.
Article in Experimental neurology, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
24 citing papers in PubMed, 33 citations in OpenAlex.
- Trial
- Biophysical and structural insights into the SCN4A E452K variant linked to myotonia and paramyotonia congenita.Scientific reports · 2025Article
- Phenotypic Variations in Clinical Presentations of Paramyotonia Congenita in Two Brothers.Annals of Indian Academy of Neurology · 2025Article
- Plateau potentials contribute to myotonia in mouse models of myotonia congenita.Experimental neurology · 2023Article
- Article
- Article
- Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.Frontiers in pediatrics · 2021Article
- TRPV4 Antagonism Prevents Mechanically Induced Myotonia.Annals of neurology · 2020Article
- Skeletal muscle ClC-1 chloride channels in health and diseases.Pflugers Archiv : European journal of physiology · 2020Review
- Central Role of Subthreshold Currents in Myotonia.Annals of neurology · 2020Review
- A role for cannabinoids in the treatment of myotonia? Report of compassionate use in a small cohort of patients.Journal of neurology · 2020Article
- Genotype-Phenotype Correlations and Characterization of Medication Use in Inherited Myotonic Disorders.Frontiers in neurology · 2020Article
- Article
- Treatment of myotonia congenita with retigabine in mice.Experimental neurology · 2019Article
- Elevation of extracellular osmolarity improves signs of myotonia congenita in vitro: a preclinical animal study.The Journal of physiology · 2019Article
- Mapping ligand binding pockets in chloride ClC-1 channels through an integrated in silico and experimental approach using anthracene-9-carboxylic acid and niflumic acid.British journal of pharmacology · 2018Article
- Inhibiting persistent inward sodium currents prevents myotonia.Annals of neurology · 2017Article
- A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.Journal of molecular neuroscience : MN · 2017Article
- Multidisciplinary study of a new ClC-1 mutation causing myotonia congenita: a paradigm to understand and treat ion channelopathies.FASEB journal : official publication of the Federation of American Societies for Experimental Biology · 2016Article
- ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.The Journal of physiology · 2015Article
Corrections and comments
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Authors and funding
3 authors at 3 institutions in 1 country.
Funding
Abstract
Non-dystrophic myotonias are rare diseases caused by mutations in skeletal muscle chloride and sodium ion channels with considerable phenotypic overlap between diseases. Common symptoms include muscle stiffness, transitory weakness, fatigue, and pain. Although seldom life-shortening, these myotonias cause life-time disability and affected individuals cannot perform many daily activities. A notable feature of the recessive form of chloride channelopathies is the presence of transient weakness. While there has been considerable progress in skeletal muscle channelopathies with regards to identifying biophysical abnormalities, the mechanism of transient weakness remains unclear. A recent study published in Experimental Neurology (Desaphy et al., 2013) explored this question further by comparing the biophysical properties of 3 chloride channel mutations associated with recessive myotonia congenita, with varying susceptibility to transient weakness. The authors identified a variety of functional defects in channel behavior among the 3 mutations, suggesting that this variability contributes to the differing phenotypes among chloride channelopathies. This commentary discusses nondystrophic myotonias, the results of Desaphy et al., and the treatment challenges in this rare disease.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.