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Article

Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.

Acta neuropathologica - 1 Feb 2013

Vielhaber Stefan, Debska-Vielhaber Grazyna, Peeva Viktoriya, Schoeler Susanne, Kudin Alexei P, Minin Irina, Schreiber Stefanie, Dengler Reinhard, Kollewe Katja, Zuschratter Werner, Kornblum Cornelia, Zsurka Gábor, Kunz Wolfram S

Abstract excerpt

Charcot-Marie-Tooth neuropathy type 2A (CMT2A) is associated with heterozygous mutations in the mitochondrial protein mitofusin 2 (Mfn2) that is intimately involved with the outer mitochondrial membrane fusion machinery. The precise consequences of these mutations on oxidative phosphorylation are...

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Source

Identifiers

PMID: 22926664
DOI: 10.1007/s00401-012-1036-y

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22926664-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

Related research

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Mitofusin 2 mutations affect mitochondrial function by mitochondrial DNA depletion.PMID 22926664Read ↗

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