ReviewContinuum (Minneapolis, Minn.)2013
Muscle channelopathies: the nondystrophic myotonias and periodic paralyses.
Review in Continuum (Minneapolis, Minn.), 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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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Who cites it
15 citing papers in PubMed, 43 citations in OpenAlex.
- 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
- Mechanisms underlying the distinct K+ dependencies of periodic paralysis.The Journal of general physiology · 2025Article
- Rare paediatric disorders in Indian healthcare settings with focus on neuromuscular disorders: Diagnostic and management challenges.Journal of biosciences · 2024Review
- Article
- Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.Muscle & nerve · 2022Observational
- Case report: Coexistence of myotonia congenita and Brugada syndrome in one family.Frontiers in neurology · 2022Article
- The clinical and genetic heterogeneity analysis of five families with primary periodic paralysis.Channels (Austin, Tex.) · 2021Article
- Inherited Neuromuscular Disorders: Which Role for Serum Biomarkers?Brain sciences · 2021Review
- Hypokalemic periodic paralysis due to CACNA1S gene mutation.Neurosciences (Riyadh, Saudi Arabia) · 2019Article
- Skeletal Muscle Channelopathies.Neurotherapeutics : the journal of the American Society for Experimental NeuroTherapeutics · 2018Review
- Review of the Diagnosis and Treatment of Periodic Paralysis.Muscle & nerve · 2018Review
- Myotonic Dystrophy and Developmental Regulation of RNA Processing.Comprehensive Physiology · 2018Review
- Bodybuilding championships and myotonia congenita.Iranian journal of neurology · 2016Article
- Review
- Normal muscle structure, growth, development, and regeneration.Current reviews in musculoskeletal medicine · 2015Article
Corrections and comments
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Authors and funding
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purpose of reviewThe muscle channelopathies are a group of rare inherited diseases caused by mutations in muscle ion channels. Mutations cause an increase or decrease in muscle membrane excitability, leading to a spectrum of related clinical disorders: the nondystrophic myotonias are characterized by delayed relaxation after muscle contraction, causing muscle stiffness and pain; the periodic paralyses are characterized by episodes of flaccid muscle paralysis. This review describes the clinical characteristics, molecular pathogenesis, and treatments of the nondystrophic myotonias and periodic paralyses. RECENT
findingsAdvances have been made in both the treatment and our understanding of the molecular pathophysiology of muscle channelopathies: (1) a recent controlled trial showed that mexiletine was effective for reducing symptoms and signs of myotonia in nondystrophic myotonia; (2) the mechanisms by which hypokalemic periodic paralysis leads to a depolarized but unexcitable sarcolemma membrane have been traced to a novel gating pore current; and (3) an association was demonstrated between mutations in a potassium inward rectifier and patients with thyrotoxic periodic paralysis. SUMMARY: The muscle channelopathies are an expanding group of muscle diseases caused by mutations in sodium, chloride, potassium, and calcium ion channels that result in increased or decreased muscle membrane excitability. Recognizing patients with channelopathies and confirming the diagnosis is important, as treatment and management strategies differ based on mutation and clinical phenotype.
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