Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene

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dc.authoridNezir Özgün / 0000-0002-0866-2004en_US
dc.authorscopusidNezir Özgün / 57190179626
dc.authorwosidNezir Özgün / GCT-0294-2022
dc.contributor.authorÖzgün, Nezir
dc.contributor.authorTaşlıdere, Hasan
dc.date.accessioned2020-08-30T20:01:34Z
dc.date.available2020-08-30T20:01:34Z
dc.date.issued2020
dc.departmentİstinye Üniversitesi, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümüen_US
dc.description.abstractBackground and objectives. Congenital Myotonia (CM) is a disease caused by mutations in the skeletal muscle chloride channel gene (CLCN1). Mutations can be transmitted as autosomal dominant (Thomsen's disease) or recessive (Becker's disease). CM is more common in men and Becker myotonia may be 10 times more common than Thomsen myotonia. Genotypic and phenotypic characteristics of CM may vary according to geographical region and ethnicity. Method. In this study, we present the genotypic and phenotypic characteristics of 20 Turkish CM patients all diagnosed by molecular genetic testing. Results. Eleven of the patients were female. c.1064+1G>A splice-site change, p.Arg338X (c.1012 C>T) stop codon, p.Gly190Ser (c.568_569delinsTC) missense mutations were detected. Eight of the 20 patients were found to be compatible with Becker type and 12 with Thomsen type, based on mode of inheritance, neurological examination findings and genetic test results. Conclusion. The c.1064+1G>A splice-site change mutation, defined for the first time in this study, expands the spectrum of mutations in the CLCN1 gene. Thomsen type and female gender were observed to be more frequent in this series of patients from Turkey. © 2020, Turkish Journal of Pediatrics. All rights reserved.en_US
dc.identifier.citationÖzgün, N., & Taşlıdere, H. (2020). Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.en_US
dc.identifier.doi10.24953/turkjped.2020.03.012en_US
dc.identifier.endpage460en_US
dc.identifier.issn0041-4301en_US
dc.identifier.issue3en_US
dc.identifier.pmid32558419en_US
dc.identifier.scopus2-s2.0-85086719730en_US
dc.identifier.scopusqualityQ3en_US
dc.identifier.startpage450en_US
dc.identifier.trdizinid411292en_US
dc.identifier.urihttps://doi.org/10.24953/turkjped.2020.03.012
dc.identifier.urihttps://hdl.handle.net/20.500.12713/296
dc.identifier.volume62en_US
dc.identifier.wosWOS:000541732400012en_US
dc.identifier.wosqualityQ4en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakTR-Dizinen_US
dc.indekslendigikaynakPubMeden_US
dc.institutionauthorÖzgün, Neziren_US
dc.language.isoenen_US
dc.publisherTurkish Journal of Pediatricsen_US
dc.relation.ispartofTurkish Journal of Pediatricsen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectBecker Diseaseen_US
dc.subjectClcn1 Geneen_US
dc.subjectCongenital Myotoniaen_US
dc.subjectThomsen Diseaseen_US
dc.titleCongenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 geneen_US
dc.typeArticleen_US

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