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Article

Large kindred evaluation of mitofusin 2 novel mutation, extremes of neurologic presentations, and preserved nerve mitochondria.

Archives of neurology - 1 Oct 2011

Klein Christopher J, Kimmel Grace W, Pittock Sean J, Engelstad JaNean E, Cunningham Julie M, Wu Yanhong, Dyck Peter J

Abstract excerpt

BACKGROUND: Mitofusin 2 (MFN2) is a mitochondrial membrane protein mediating mitochondrial fusion and function. Mutated MFN2 is responsible for Charcot-Marie-Tooth type 2A2. In small kindreds, specific MFN2 mutations have been reported to associate with severity of axonal neuropathy, optic atrophy, and involvement of the central nervous system. The results of the nerve biopsy specimens suggested that the...

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Identifiers

PMID: 21987543
DOI: 10.1001/archneurol.2011.225
PMCID: PMC3543870

Genes

MFN2

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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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