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Article

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

Medicine - 22 Jul 2022

Meng Yan-Xin, Yu Mei, Liu Chunmiao, Zhang Haijuan, Yang Yuxiu, Zhang Jing

Abstract excerpt

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...

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PMID: 35866763
DOI: 10.1097/MD.0000000000029591
PMCID: PMC9302320

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