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

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 mus...

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Detalles Bibliográficos
Autores principales: Meng, Yan-Xin, Yu, Mei, Liu, Chunmiao, Zhang, Haijuan, Yang, Yuxiu, Zhang, Jing
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Lippincott Williams & Wilkins 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9302320/
https://www.ncbi.nlm.nih.gov/pubmed/35866763
http://dx.doi.org/10.1097/MD.0000000000029591