ArticleChannels (Austin, Tex.)2017
Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
Article in Channels (Austin, Tex.), 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 14 citations in OpenAlex.
- Neck muscle hypertrophy in paramyotonia congenita caused by a missense variant in the SCN4A gene (p.Val445Met).Acta neurologica Belgica · 2025Article
- Clinical and genetic analysis and literature review of children with myotonia congenita due to CLCN1 mutations.Italian journal of pediatrics · 2025Review
- Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.Channels (Austin, Tex.) · 2022Review
- The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.Frontiers in neurology · 2022Article
- Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.Frontiers in neurology · 2022Article
- Myotonia Congenita: Clinical Characteristic and Mutation Spectrum of CLCN1 in Chinese Patients.Frontiers in pediatrics · 2021Article
Corrections and comments
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Myotonia congenita (MC), paramyotonia congenita (PC) and sodium channel myotonias(SCM) were belonged to Non-dystrophic myotonias, in which muscle relaxation is delayed after voluntary or evoked contraction. These diseases can not be simply distinguished only based on symptoms and signs but also on genetics: more than 100 mutations in the CLCN1 gene have been associated with MC, while at least 20 mutations in the SCN4A gene have been associated with PC and SCM. Most of these genetics studies have been conducted outside China, only several MC, PC, and SCM families accepted gene scan were reported in China. Therefore we analyzed genetic mutations in CLCN1 and SCN4A in 10 Chinese families clinically diagnosed with Non-dystrophic myotonias. Our result revealed 12 potential disease-causing mutations(3 mutations were novel) that were present in the probands and affected family members. We also reviewed all available literature on mutations linked to these 3 disease in Chinese populations. Our results may help identify genetic determinants as well as clarify genotype-phenotype relationships.
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