Publication:
Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).

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dc.contributor.authorCoote, David J
dc.contributor.authorDavis, Mark R
dc.contributor.authorCabrera, Macarena
dc.contributor.authorNeedham, Merrilee
dc.contributor.authorLaing, Nigel G
dc.contributor.authorNowak, Kristen J
dc.date.accessioned2023-01-25T10:07:27Z
dc.date.available2023-01-25T10:07:27Z
dc.date.issued2018-07
dc.description.abstractMyotonia congenita is a genetic disease of skeletal muscle membrane hyperexcitability caused by variants in CLCN1, leading to reduced conductance of the main skeletal muscle chloride channel (ClC-1) [1]. This disorder can be inherited in an autosomal dominant ( Thomsen disease ; sometimes associated with reduced penetrance ) or recessive ( Becker disease ; OMIM 255700) fashion. Thomsen disease is rare and exhibits a high degree of genetic heterogeneity.
dc.description.versionSi
dc.identifier.citationCoote DJ, Davis MR, Cabrera M, Needham M, Laing NG, Nowak KJ. Clinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease). Eur J Hum Genet. 2018 Jul;26(7):1072-1077.
dc.identifier.doi10.1038/s41431-017-0065-3
dc.identifier.essn1476-5438
dc.identifier.pmcPMC6018704
dc.identifier.pmid29695755
dc.identifier.pubmedURLhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018704/pdf
dc.identifier.unpaywallURLhttps://www.nature.com/articles/s41431-017-0065-3.pdf
dc.identifier.urihttp://hdl.handle.net/10668/12394
dc.issue.number7
dc.journal.titleEuropean journal of human genetics : EJHG
dc.journal.titleabbreviationEur J Hum Genet
dc.language.isoen
dc.organizationInstituto de Biomedicina de Sevilla-IBIS
dc.organizationHospital Universitario Virgen del Rocío
dc.page.number1072-1077
dc.provenanceRealizada la curación de contenido 03/04/2025
dc.publisherNature Publishing Group
dc.pubmedtypeJournal Article
dc.pubmedtypeResearch Support, Non-U.S. Gov't
dc.relation.publisherversionhttps://doi.org/10.1038/s41431-017-0065-3
dc.rights.accessRightsRestricted Access
dc.subjectGenetic testing
dc.subjectNeuromuscular disease
dc.subject.decsMiotonía congénita
dc.subject.decsEnfermedades genéticas congénitas
dc.subject.decsMembranas
dc.subject.decsMúsculos
dc.subject.decsMúsculo esquelético
dc.subject.decsPenetrancia
dc.subject.decsEnfermedad
dc.subject.decsBases de datos genéticas
dc.subject.decsCanales de cloruro
dc.subject.meshChromosome Disorders
dc.subject.meshGenes, Dominant
dc.subject.meshHumans
dc.subject.meshMyotonia Congenita
dc.subject.meshPedigree
dc.titleClinical Utility Gene Card for: autosomal dominant myotonia congenita (Thomsen Disease).
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number26
dspace.entity.typePublication

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