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[Novel MFN2, BSCL2 and LRSAM1 variants in a cohort of Chinese patients with Charcot-Marie-Tooth disease].

Zhonghua nei ke za zhi - 1 Aug 2022

Sun B, He Z Q, Wang H F, Li Y R, Yang F, Cui F, Chen Z H, Huang X S

Abstract excerpt

Objective: Charcot-Marie-Tooth disease (CMT) comprises a group of clinically and genetically heterogeneous inherited neuropathies with an estimated prevalence of 1 in 2500. This study aimed to analyze the clinical and mutational characteristics of Chinese CMT patients with MFN2, BSCL2 and LRSAM1 variants. Methods: In this study, genetic analysis was performed in 206 Chinese patients at Chinese PLA General...

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PMID: 35922214
DOI: 10.3760/cma.j.cn112138-20211010-00686

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