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Article

[Ultrastructural lesions of axonal mitochondria in patients with childhood-onset Charcot-Marie-Tooth disease due to MFN2 mutations].

Bulletin de l'Academie nationale de medecine - 1 Jan 2009

Funalot Benoît, Magdelaine Corinne, Sturtz Franck, Ouvrier Robert, Vallat Jean-Michel

Abstract excerpt

We present neuropathological findings based on sural nerve biopsy in six children with mutations of the mitofusin 2 gene (MFN2). All six children had severe axonal neuropathies (mild or severe hereditary motor and sensory neuropathy, HMSN), with onset in early childhood. All had a marked decrease in the density of mainly large myelinated fibers. Although neurophysiological findings were suggestive of axonal...

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Source

Identifiers

PMID: 19718987

Genes

MFN2
FGD4
GDAP1
GJB1
LMNA
MPZ
MTMR2
PRX

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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