Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children

Basit Öğe Kaydı
dc.authoridTütüncü Toker, Rabia/0000-0002-3129-334X
dc.authoridAYDIN, SEREN/0000-0002-9092-4383
dc.authorid, sanem/0000-0002-8719-0665
dc.authoridOzgun, Nezir/0000-0002-0866-2004
dc.authoridKOMUR, MUSTAFA/0000-0001-6453-7323
dc.authorscopusid57193824867
dc.authorscopusid57212084131
dc.authorscopusid57458590800
dc.authorscopusid6602216538
dc.authorscopusid57190179626
dc.authorscopusid8861776400
dc.authorscopusid6602193576
dc.authorwosidTütüncü Toker, Rabia/IZP-6290-2023
dc.contributor.authorÖz Tuncer, Gökçen
dc.contributor.authorSanrı, Aslihan
dc.contributor.authorAydın, Seren
dc.contributor.authorHerguner, Özlem M.
dc.contributor.authorÖzgun, Nezir
dc.contributor.authorKomur, Mustafa
dc.contributor.authorİçağasıoğlu, Dilara F.
dc.date.accessioned2024-08-25T18:51:07Z
dc.date.available2024-08-25T18:51:07Z
dc.date.issued2023
dc.departmentEge Üniversitesien_US
dc.description.abstractBackground: Myotonia congenita is the most common form of nondystrophic myotonia and is caused by Mendelian inherited mutations in the CLCN1 gene encoding the voltage-gated chloride channel of skeletal muscle. Objective: The study aimed to describe the clinical and genetic spectrum of Myotonia congenita in a large pediatric cohort. Methods: Demographic, genetic, and clinical data of the patients aged under 18 years at time of first clinical attendance from 11 centers in different geographical regions of Turkiye were retrospectively investigated. Results: Fifty-four patients (mean age:15.2 years (+/- 5.5), 76% males, with 85% Becker, 15% Thomsen form) from 40 families were included. Consanguineous marriage rate was 67%. 70.5% of patients had a family member with Myotonia congenita. The mean age of disease onset was 5.7 (+/- 4.9) years. Overall 23 different mutations (2/23 were novel) were detected in 52 patients, and large exon deletions were identified in two siblings. Thomsen and Becker forms were observed concomitantly in one family. Carbamazepine (46.3%), mexiletine (27.8%), phenytoin (9.3%) were preferred for treatment. Conclusions: The clinical and genetic heterogeneity, as well as the limited response to current treatment options, constitutes an ongoing challenge. In our cohort, recessive Myotonia congenita was more frequent and novel mutations will contribute to the literature.en_US
dc.identifier.doi10.3233/JND-230046
dc.identifier.endpage924en_US
dc.identifier.issn2214-3599
dc.identifier.issn2214-3602
dc.identifier.issue5en_US
dc.identifier.pmid37355912en_US
dc.identifier.scopus2-s2.0-85170581973en_US
dc.identifier.scopusqualityQ1en_US
dc.identifier.startpage915en_US
dc.identifier.urihttps://doi.org/10.3233/JND-230046
dc.identifier.urihttps://hdl.handle.net/11454/102478
dc.identifier.volume10en_US
dc.identifier.wosWOS:001067500200013en_US
dc.identifier.wosqualityQ2en_US
dc.indekslendigikaynakWeb of Scienceen_US
dc.indekslendigikaynakScopusen_US
dc.indekslendigikaynakPubMeden_US
dc.language.isoenen_US
dc.publisherIos Pressen_US
dc.relation.ispartofJournal of Neuromuscular Diseasesen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.snmz20240825_Gen_US
dc.subjectMyotonia congenitaen_US
dc.subjectCLCN1en_US
dc.subjectgenetic heterogeneityen_US
dc.subjectchilden_US
dc.subjectSkeletal-Muscle Channelopathiesen_US
dc.subjectClcn1 Geneen_US
dc.subjectMutationsen_US
dc.subjectChlorideen_US
dc.subjectPrevalenceen_US
dc.subjectDiseaseen_US
dc.subjectFamilyen_US
dc.subjectCohorten_US
dc.titleClinical and Genetic Spectrum of Myotonia Congenita in Turkish Childrenen_US
dc.typeArticleen_US

Dosyalar

Koleksiyon

WoS İndeksli Yayınlar Koleksiyonu
PubMed İndeksli Yayın Koleksiyonu
Scopus İndeksli Yayınlar Koleksiyonu