Scopus
🔓 Açık Erişim
Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children
Journal of Neuromuscular Diseases · Eylül 2023
Makale Bilgileri
DergiJournal of Neuromuscular Diseases
Yayın TarihiEylül 2023
Cilt / Sayfa10 · 915-924
Scopus ID2-s2.0-85170581973
Erişim🔓 Açık Erişim
Özet
Background: 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.
Yazarlar (16)
1
Gökçen Öz Tunçer
ORCID: 0000-0002-4027-6330
2
Aslihan Sanri
3
Seren Aydin
ORCID: 0000-0002-9092-4383
4
Özlem M. Hergüner
ORCID: 0000-0002-2810-5539
5
Nezir Özgün
ORCID: 0000-0002-0866-2004
6
Mustafa Kömür
ORCID: 0000-0001-6453-7323
7
Füsun D. Icagasioglu
8
Rabia Tütüncü Toker
ORCID: 0000-0002-3129-334X
9
Sanem Yilmaz
ORCID: 0000-0002-8719-0665
10
Elif Acar Arslan
ORCID: 0000-0002-3284-107X
11
Mesut Güngör
ORCID: 0000-0003-1594-0006
12
Gültekin Kutluk
ORCID: 0000-0002-3631-068X
13
Ilknur Erol
ORCID: 0000-0002-3530-0463
14
Gülen Gül Mert
ORCID: 0000-0002-1160-5617
15
Burçin Gönüllü Polat
ORCID: 0000-0002-5936-7208
16
Ayşe Aksoy
ORCID: 0000-0001-7533-1638
Anahtar Kelimeler
child
CLCN1
genetic heterogeneity
Myotonia congenita
Kurumlar
Başkent Üniversitesi
Ankara Turkey
Bezmiâlem Vakıf Üniversitesi
Istanbul Turkey
Çukurova Üniversitesi Tip Fakültesi
Adana Turkey
Ege University Medical School
Izmir Turkey
Karadeniz Teknik Üniversitesi Tip Fakültesi
Trabzon Turkey
Kocaeli Üniversitesi
İzmit Turkey
Mardin Artuklu University
Mardin Turkey
Mersin Üniversitesi
Mersin Turkey
Ondokuz Mayis University, Medical School
Samsun Turkey
University of Health Sciences
Istanbul Turkey
Metrikler
4
Atıf
16
Yazar
4
Anahtar Kelime