Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.

ABSTRACT:

Background

This study aimed to characterize the genetic, pathological, and clinical alterations of 17 patients in China presenting with nondystrophic myotonia (NDM) and to analyze the relationship between genotype and clinical phenotype.

Methods

CLCN1 and SCN4A genes in patients with clinical features and muscle pathology indicative of NDM were sequenced. Furthermore, KCNE3 and CACNA1S genes were assessed in patients with wild-type CLCN1 and SCN4A.

Results

Patients may have accompanying atypical myopathy as well as muscle hypertrophy, secondary dystonia, and joint contracture as determined by needle electromyography. All the study participants were administered mexiletine in combination with carbamazepine and showed significant improvements in myotonia symptoms in res

SUBMITTER: Meng YX 

PROVIDER: S-EPMC9302320 | biostudies-literature | 2022 Jul

REPOSITORIES: biostudies-literature