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Article

A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.

Journal of the neurological sciences - 15 Nov 2015

Lv He, Wang Lu, Zhang Wei, Wang Zhaoxia, Zuo Yuehuan, Liu Jing, Yuan Yun

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth 2A (CMT2A) is caused by mutations in mitochondrial fusion protein mitofusin 2 (MFN2). CMT2A had a large variety of clinical symptoms and several cohort studies were published recently. This study is to summarized the clinical, electrophysiological, pathological and genetic features in Han Chinese CMT2A. METHODS: 20 patients from 12 unrelated Chinese families with MFN2 related CMT2A...

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Source

Identifiers

PMID: 26382835
DOI: 10.1016/j.jns.2015.08.1528

Genes

MFN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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