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Identification of Novel Mutations of the CLCN-1 and SCN4A Genes in Non-dystrophic Myotonia in China by Yanxin Meng; Chunmiao Liu; Mei Yu; Haijuan Zhang; Yuxiu Yang is a scholarly article available to read on EtoBox.

What is Identification of Novel Mutations of the CLCN-1 and SCN4A Genes in Non-dystrophic Myotonia in China about?

## Abstract Background: The aim of our study was to characterize the genetic, pathological and clinical alterations of 17 patients in China presenting with non-dystrophic myotonia (NDM). Methods: We first sequenced the CLCN-1 gene in patients having clinical features and muscle pathology indicative of NDM. If no mutations were detected, we subsequently analyzed the SCN4A, KCNE3 and CACNA1S genes. Results: As determined by needle electromyography, patients may have accompanying atypical myopathy as well as muscle hypertrophy, secondary dystonia and joint contracture All participants in this study were administered mexiletine in combination with carbamazepine and showed significant improvements in their myotonia symptoms. Routine pathological examinations showed mild abnormalities in muscle pathology. Oxidative enzyme activity was decreased in many fibers. ATPase studies of fiber subtypes demonstrated a predominance of type 2A fibers and a complete absence of type 2B muscle fibers in patients with CLCN-1 mutations. CLCN-1 gene mutations were found in 8 cases diagnosed with myotonia congenital by gene screening. The detected mutations included 5 missense, 2 nonsense, 1 deletion and 2

Author

Yanxin Meng; Chunmiao Liu; Mei Yu; Haijuan Zhang; Yuxiu Yang

Publisher

Research Square Platform LLC

Published

2021

Language

EN