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Article

Mitochondrial GTPase mitofusin 2 mutations in Korean patients with Charcot-Marie-Tooth neuropathy type 2.

Clinical genetics - 1 Mar 2007

Cho H-J, Sung D H, Kim B J, Ki C-S

Abstract excerpt

Charcot-Marie-Tooth disease (CMT) is classified into two types, the demyelinating (CMT1) and axonal forms (CMT2). CMT2 is further subdivided by linkage analysis into eight subgroups. Recently, mutations in the MFN2 gene, which encodes the mitochondrial GTPase mitofusin 2 (Mfn2) that regulates the mitochondrial network architecture by fusing the mitochondria, were identified in CMT2A patients. This study carried...

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Identifiers

PMID: 17309650
DOI: 10.1111/j.1399-0004.2007.00763.x

Genes

MFN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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