ArticleNeurology2012
A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1.
Article in Neurology, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 35 citations in OpenAlex.
- [Congenital myotonia. Incidence and presentation of a series of cases].Revista de neurologia · 2023Article
- Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.Journal of neuromuscular diseases · 2023Article
- Case report: Incomplete penetrance of autosomal dominant myotonia congenita caused by a rareFrontiers in genetics · 2022Article
- Ion Channel Gene Mutations Causing Skeletal Muscle Disorders: Pathomechanisms and Opportunities for Therapy.Cells · 2021Review
- Article
- An Up-to-Date Overview of the Complexity of Genotype-Phenotype Relationships in Myotonic Channelopathies.Frontiers in neurology · 2019Review
- Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).European journal of human genetics : EJHG · 2018Article
- Genetic neurological channelopathies: molecular genetics and clinical phenotypes.Journal of neurology, neurosurgery, and psychiatry · 2016Review
- ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.The Journal of physiology · 2015Article
- Clinical, Molecular, and Functional Characterization of CLCN1 Mutations in Three Families with Recessive Myotonia Congenita.Neuromolecular medicine · 2015Article
- ClC-1 chloride channels: state-of-the-art research and future challenges.Frontiers in cellular neuroscience · 2015Review
- Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.Brain : a journal of neurology · 2013Article
- Next-generation sequencing in understanding complex neurological disease.Expert review of neurotherapeutics · 2013Review
- A Novel Mutation in the CLCN1 Gene Causing Autosomal Recessive Myotonia Congenita in Siblings.Annals of Indian Academy of NeurologyArticle
Corrections and comments
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Authors and funding
14 authors at 1 institution in 1 country.
Funding
Abstract
objectiveTo assess whether exon deletions or duplications in CLCN1 are associated with recessive myotonia congenita (MC).
methodsWe performed detailed clinical and electrophysiologic characterization in 60 patients with phenotypes consistent with MC. DNA sequencing of CLCN1 followed by multiplex ligation-dependent probe amplification to screen for exon copy number variation was undertaken in all patients.
resultsExon deletions or duplications in CLCN1 were identified in 6% of patients with MC. Half had heterozygous exonic rearrangements. The other 2 patients (50%), with severe disabling infantile onset myotonia, were identified with both a homozygous mutation, Pro744Thr, which functional electrophysiology studies suggested was nonpathogenic, and a triplication/homozygous duplication involving exons 8-14, suggesting an explanation for the severe phenotype.
conclusionsThese data indicate that copy number variation in CLCN1 may be an important cause of recessive MC. Our observations suggest that it is important to check for exon deletions and duplications as part of the genetic analysis of patients with recessive MC, especially in patients in whom sequencing identifies no mutations or only a single recessive mutation. These results also indicate that additional, as yet unidentified, genetic mechanisms account for cases not currently explained by either CLCN1 point mutations or exonic deletions or duplications.
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