ReviewFrontiers in neurology2019
An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.
Review in Frontiers in neurology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
What it found
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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, 44 citations in OpenAlex.
- Article
- Article
- Severe Adult-Onset Non-Dystrophic Myotonia With Apnea and Laryngospasm Due to Digenic Inheritance ofNeurology. Genetics · 2025Article
- Clinical, electromyographic, and biophysical characterization of the rare Nav1.4 channel mutationFrontiers in physiology · 2025Article
- Myotonia Congenita in Australian Merino Sheep with a Missense Variant inAnimals : an open access journal from MDPI · 2024Article
- Phenotypic Variability of Andersen-Tawil Syndrome Due to Allelic Mutation c.652C>T in theBiomolecules · 2024Article
- Contractile properties and magnetic resonance imaging-assessed fat replacement of muscles in myotonia congenita.European journal of neurology · 2024Article
- Variants inAnimals : an open access journal from MDPI · 2024Article
- Acetazolamide-responsive myotonia with a novel Ile239Thr mutation inAnnals of medicine and surgery (2012) · 2024Article
- Expert Insights from a Delphi-driven Neurologists' Panel: Real-world Mexiletine use in Patients with Myotonic Disorders in Italy.Journal of neuromuscular diseases · 2024Article
- Muscle channelopathies: A review.Annals of the Child Neurology Society · 2023Review
- ClC-1 Chloride Channel: Inputs on the Structure-Function Relationship of Myotonia Congenita-Causing Mutations.Biomedicines · 2023Review
- [Congenital myotonia. Incidence and presentation of a series of cases].Revista de neurologia · 2023Article
- A novel mutation of the CLCN1 gene in a cat with myotonia congenita: Diagnosis and treatment.Journal of veterinary internal medicine · 2022Article
- The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.Frontiers in neurology · 2022Article
- Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rareFrontiers in genetics · 2022Article
- Case report: Coexistence of myotonia congenita and Brugada syndrome in one family.Frontiers in neurology · 2022Article
- Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.Cells · 2021Review
- Article
- Pediatric Paroxysmal Exercise-Induced Neurological Symptoms: Clinical Spectrum and Diagnostic Algorithm.Frontiers in neurology · 2021Review
Corrections and comments
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Authors and funding
2 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonic disorders are inherited neuromuscular diseases divided into dystrophic myotonias and non-dystrophic myotonias (NDM). The latter is a group of dominant or recessive diseases caused by mutations in genes encoding ion channels that participate in the generation and control of the skeletal muscle action potential. Their altered function causes hyperexcitability of the muscle membrane, thereby triggering myotonia, the main sign in NDM. Mutations in the genes encoding voltage-gated Cl
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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.