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Article

Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

Journal of neuromuscular diseases - 1 Jan 2023

Öz Tunçer Gökçen, Sanri Aslıhan, Aydin Seren, Hergüner Özlem M, Özgün Nezir, Kömür Mustafa, İçağasioğlu Dilara F, Toker Rabia Tütüncü, Yilmaz Sanem, Arslan Elif Acar, Güngör Mesut, Kutluk Gültekin, Erol İlknur, Mert Gülen Gül, Polat Burçin Gönüllü, Aksoy Ayşe

Abstract excerpt

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...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 37355912
DOI: 10.3233/JND-230046
PMCID: PMC10578252

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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