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Article

Mutational mechanisms in MFN2-related neuropathy: compound heterozygosity for recessive and semidominant mutations.

Journal of the peripheral nervous system : JPNS - 1 Dec 2015

Piscosquito Giuseppe, Saveri Paola, Magri Stefania, Ciano Claudia, Di Bella Daniela, Milani Micaela, Taroni Franco, Pareyson Davide

Abstract excerpt

Mitofusin-2 (MFN2) mutations are the most common cause of autosomal dominant axonal Charcot-Marie-Tooth disease (CMT, type 2A), sometimes complicated by additional features such as optic atrophy (CMT6) and upper motor neuron involvement (CMT5). Several pathogenic mutations are reported, mainly acting in a dominant fashion, although few sequence variants behaved as recessive or semidominant in rare homozygous or...

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Identifiers

PMID: 26306937
DOI: 10.1111/jns.12145

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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