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Article

Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation.

Brain & development - 1 May 2016

Di Meglio Chloé, Bonello-Palot Nathalie, Boulay Christophe, Milh Mathieu, Ovaert Caroline, Levy Nicolas, Chabrol Brigitte

Abstract excerpt

INTRODUCTION: The Mitofusin 2 gene (MFN2), which encodes a mitochondrial membrane protein, is known to be the first cause of autosomal dominant Charcot-Marie-Tooth disease type 2 (CMT2) with early onset. This gene is involved in typical CMT2A and in more atypical phenotypes as optic atrophy or spastic paraplegia. CMT2 refers to inherited axonal polyneuropathy, which associates progressive peripheral motor and...

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Source

Identifiers

PMID: 26686600
DOI: 10.1016/j.braindev.2015.11.006

Genes

MFN2

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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