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Article

Altered axonal mitochondrial transport in the pathogenesis of Charcot-Marie-Tooth disease from mitofusin 2 mutations.

The Journal of neuroscience : the official journal of the Society for Neuroscience - 10 Jan 2007

Baloh Robert H, Schmidt Robert E, Pestronk Alan, Milbrandt Jeffrey

Abstract excerpt

Mutations in the mitochondrial fusion protein mitofusin 2 (MFN2) are the most commonly identified cause of Charcot-Marie-Tooth type 2 (CMT2), a dominantly inherited disease characterized by degeneration of peripheral sensory and motor axons. However, the mechanism by which mutations in this ubiquitously expressed mitochondrial fusion protein lead to neuropathy has not yet been elucidated. To explore how MFN2...

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Identifiers

PMID: 17215403
DOI: 10.1523/JNEUROSCI.4798-06.2007
PMCID: PMC6672077

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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