Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children

dc.authorid0000-0002-0866-2004en_US
dc.authorscopusid57190179626en_US
dc.authorwosidAAR-5602-2020en_US
dc.contributor.authorGökçen Öz Tunçer , Aslıhan Sanri , Seren Aydin , Özlem M Hergüner , Nezir Özgün , Mustafa Kömür , Dilara F İçağasioğlu , Rabia Tütüncü Toker , Sanem Yilmaz , Elif Acar Arslan , Mesut Güngör , Gültekin Kutluk , İlknur Erol , Gülen Gül Mert , Burçin Gönüllü Polat , Ayşe Aksoy
dc.date.accessioned2024-01-01T08:33:18Z
dc.date.available2024-01-01T08:33:18Z
dc.date.issued2023 Sepen_US
dc.departmentMAÜ, Fakülteler, Tıp Fakültesi, Dahili Tıp Bilimleri Bölümü, Çocuk Sağlığı ve Hastalıkları Ana Bilim Dalıen_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 Türkiye 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.citationÖz Tunçer G, Sanri A, Aydin S, Hergüner ÖM, Özgün N, Kömür M, İçağasioğlu DF, Toker RT, Yilmaz S, Arslan EA, Güngör M, Kutluk G, Erol İ, Mert GG, Polat BG, Aksoy A. Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children. J Neuromuscul Dis. 2023;10(5):915-924. doi: 10.3233/JND-230046. PMID: 37355912; PMCID: PMC10578252.en_US
dc.identifier.doi10.3233/JND-230046en_US
dc.identifier.endpage915en_US
dc.identifier.issue5en_US
dc.identifier.pmid37355912en_US
dc.identifier.startpage915en_US
dc.identifier.urihttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC10578252/
dc.identifier.urihttps://hdl.handle.net/20.500.12514/5355
dc.identifier.volume10en_US
dc.identifier.wosqualityQ1en_US
dc.institutionauthorÖzgün, Nezir
dc.language.isoenen_US
dc.publisherIOS pressen_US
dc.relation.publicationcategoryMakale - Uluslararası Hakemli Dergi - Kurum Öğretim Elemanıen_US
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectCLCN1; Myotonia congenita; child; genetic heterogeneity.en_US
dc.titleClinical and Genetic Spectrum of Myotonia Congenita in Turkish Childrenen_US
dc.typeArticleen_US

Dosyalar

Orijinal paket
Listeleniyor 1 - 1 / 1
Yükleniyor...
Küçük Resim
İsim:
Clinical and Genetic Spectrum of Myotonia.pdf
Boyut:
202.01 KB
Biçim:
Adobe Portable Document Format
Açıklama:
Lisans paketi
Listeleniyor 1 - 1 / 1
Küçük Resim Yok
İsim:
license.txt
Boyut:
1.44 KB
Biçim:
Item-specific license agreed upon to submission
Açıklama: