ArticleFrontiers in neurology2022
The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.
Article in Frontiers in neurology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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9 citing papers in PubMed, 11 citations in OpenAlex.
- Voltage-gated sodium channels in the nervous system: Molecular physiology to therapeutic interventions.Neural regeneration research · 2026Article
- Active-NDM: Development of a patient-reported outcome questionnaire to measure the impact of non-dystrophic myotonia on activity of daily living.Journal of neuromuscular diseases · 2026Article
- Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.Italian journal of pediatrics · 2025Review
- The influence of kinematic viscosity of oils on the energy consumption of a gear pump used for pumping oil in machines and vehicles.PloS one · 2025Article
- Clinical and genetic characteristics of myotonia congenita in Chinese population.Channels (Austin, Tex.) · 2024Article
- Article
- Case report: Multiple approach analysis in a case of clinically assessed myotonia congenita.Frontiers in genetics · 2024Article
- Muscle channelopathies: A review.Annals of the Child Neurology Society · 2023Review
- Case report: Coexistence of myotonia congenita and Brugada syndrome in one family.Frontiers in neurology · 2022Article
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Introduction: Non-dystrophic myotonias (NDMs) are skeletal muscle ion channelopathies caused by Methods: We reviewed the clinical manifestations, laboratory results, electrocardiogram, electromyography, muscle biopsy, genetic analysis, treatment, and follow-up of 20 patients (from 18 families) with NDM. Results: Cases included myotonia congenita (MC, 17/20) and paramyotonia congenita (PMC, 3/20). Muscle stiffness and hypertrophy, grip and percussion myotonia, and the warm-up phenomenon were frequently observed in MC and PMC patients. Facial stiffness, eye closure myotonia, and cold sensitivity were more common in PMC patients and could be accompanied by permanent weakness. Nine MC patients and two PMC patients had cardiac abnormalities, mainly manifested as cardiac arrhythmia, and the father of one patient died of sudden cardiac arrest. Myotonic runs in electromyography were found in all patients, and seven MC patients had mild myopathic changes. There was no difference in muscle pathology between MC and PMC patients, most of whom had abnormal muscle fiber type distribution or selective muscle fiber atrophy. Nineteen Conclusions: MC and PMC have considerable phenotypic overlap. Genetic investigation contributes to identifying the subtype of NDM. The muscle pathology of NDM lacks specific changes.
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