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Article

Cerebral involvement in axonal Charcot-Marie-Tooth neuropathy caused by mitofusin2 mutations.

Journal of neurology - 1 Jul 2008

Brockmann Knut, Dreha-Kulaczewski Steffi, Dechent Peter, Bönnemann Carsten, Helms Gunther, Kyllerman Marten, Brück Wolfgang, Frahm Jens, Huehne Kathrin, Gärtner Jutta, Rautenstrauss Bernd

Abstract excerpt

Mutations in the mitofusin 2 (MFN2) gene are a major cause of primary axonal Charcot- Marie-Tooth (CMT) neuropathy. This study aims at further characterization of cerebral white matter alterations observed in patients with MFN2 mutations. Molecular genetic, magnetic resonance imaging (MRI), magnetic resonance spectroscopy (MRS), and diffusion tensor imaging (DTI) investigations were performed in four unrelated...

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Source

Identifiers

PMID: 18425620
DOI: 10.1007/s00415-008-0847-1

Genes

MFN2

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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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