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Article

Severe early-onset axonal neuropathy with homozygous and compound heterozygous MFN2 mutations.

Neurology - 6 May 2008

Nicholson G A, Magdelaine C, Zhu D, Grew S, Ryan M M, Sturtz F, Vallat J-M, Ouvrier R A

Abstract excerpt

OBJECTIVE: Severe early-onset axonal neuropathy (SEOAN) is a heterogeneous phenotype first delineated by Ouvrier et al., characterized by progressive axonal degeneration with gait problems often progressing to wheelchair requirement and later respiratory involvement. Most cases are sporadic singl...

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Source

Identifiers

PMID: 18458227
DOI: 10.1212/01.wnl.0000311275.89032.22

Genes

MFN2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-18458227-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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