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Article

Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).

BMC medical genetics - 8 Jun 2006

Engelfried Kathrin, Vorgerd Matthias, Hagedorn Michaela, Haas Gerhard, Gilles Jürgen, Epplen Jörg T, Meins Moritz

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth neuropathies are a group of genetically heterogeneous diseases of the peripheral nervous system. Mutations in the MFN2 gene have been reported as the primary cause of Charcot-Marie-Tooth disease type 2A. METHODS: Patients with the clinical diagnosis of Charcot-Marie-Tooth type 2 were screened using single strand conformation polymorphism (SSCP). All DNA samples showing band shifts...

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Identifiers

PMID: 16762064
DOI: 10.1186/1471-2350-7-53
PMCID: PMC1524942

Genes

MFN2

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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Charcot-Marie-Tooth neuropathy type 2A: novel mutations in the mitofusin 2 gene (MFN2).PMID 16762064Read ↗

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