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Article

Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.

Experimental neurology - 1 May 2008

Amiott Elizabeth A, Lott Paul, Soto Jamie, Kang Peter B, McCaffery J Michael, DiMauro Salvatore, Abel E Dale, Flanigan Kevin M, Lawson Victoria H, Shaw Janet M

Abstract excerpt

Charcot-Marie-Tooth Type 2A is a dominantly inherited peripheral neuropathy characterized by axonal degeneration of sensory and motor nerves. The disease is caused by mutations in the mitochondrial fusion gene MFN2. Mfn2 is an integral outer mitochondrial membrane protein composed of a large GTPa...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 18316077
DOI: 10.1016/j.expneurol.2008.01.010
PMCID: PMC2409111

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-18316077-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

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Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations.PMID 18316077Read ↗

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Characterization of a novel variant in the HR1 domain of <i>MFN2</i> in a patient with ataxia, optic atrophy and sensorineural hearing lossSemantic proximity Read ↗

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