Coote, David JDavis, Mark RCabrera, MacarenaNeedham, MerrileeLaing, Nigel GNowak, Kristen J2023-01-252023-01-252018-07Coote 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.http://hdl.handle.net/10668/12394Myotonia 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.enGenetic testingNeuromuscular diseaseChromosome DisordersGenes, DominantHumansMyotonia CongenitaPedigreeresearch article29695755Restricted AccessMiotonía congénitaEnfermedades genéticas congénitasMembranasMúsculosMúsculo esqueléticoPenetranciaEnfermedadBases de datos genéticasCanales de cloruro10.1038/s41431-017-0065-31476-5438PMC6018704https://www.nature.com/articles/s41431-017-0065-3.pdfhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC6018704/pdf