Clinical and Genetic Spectrum of Myotonia Congenita in Turkish Children.

ABSTRACT:

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 Myoton

SUBMITTER: Oz Tuncer G 

PROVIDER: S-EPMC10578252 | biostudies-literature | 2023

REPOSITORIES: biostudies-literature