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Article

MFN2-related genetic and clinical features in a cohort of Chinese CMT2 patients.

Journal of the peripheral nervous system : JPNS - 1 Mar 2016

Xie Yongzhi, Li Xiaobo, Liu Lei, Hu Zhengmao, Huang Shunxiang, Zhan Yajin, Zi Xiaohong, Xia Kun, Tang Beisha, Zhang Ruxu

Abstract excerpt

Charcot-Marie-Tooth disease 2A (CMT2A), caused by mutations in the mitofusin 2 gene (MFN2), is the most common CMT2 subtype. The aim of our study is to assess the frequency and summarize the genetic and clinical characteristics of Chinese CMT2A patients. A total of 17 coding exons of MFN2 were detected by direct sequencing in 82 unrelated Chinese families diagnosed as CMT2. Clinical evaluations were analyzed...

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Source

Identifiers

PMID: 26801520
DOI: 10.1111/jns.12159

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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