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Article

Acute optic neuropathy associated with a novel MFN2 mutation.

Journal of neurology - 1 Jul 2015

Leonardi Luca, Marcotulli Christian, Storti Eugenia, Tessa Alessandra, Serrao Mariano, Parisi Vincenzo, Santorelli F M, Pierelli Francesco, Casali Carlo

Abstract excerpt

Mutations in the mitofusin 2 (MFN2) gene cause CMT2A the most common form of autosomal dominant axonal Charcot-Marie-Tooth (CMT). In addition, mutations in MFN2 have been shown to be responsible for Hereditary Motor Sensory Neuropathy type VI (HSMN VI), a rare early-onset axonal CMT associated wi...

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Source

Identifiers

PMID: 25957633
DOI: 10.1007/s00415-015-7756-x

Genes

MFN2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-25957633-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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