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Article

A novel homozygous MFN2 mutation associated with severe and atypical CMT2 phenotype.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2018

Iapadre Giulia, Morana Giovanni, Vari Maria Stella, Pinto Francesca, Lanteri Paola, Tessa Alessandra, Santorelli Filippo Maria, Striano Pasquale, Verrotti Alberto

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth (CMT) neuropathies represent the most common forms of inherited polyneuropathies. CMT2A, the axonal form, accounts for about one third of all CMT cases. Variants in the MFN2 gene have been recognized to be a major cause of CMT2A. To date, more than 100 pathogenetic mutations in MFN2 have been identified, leading to different neurological clinical spectrum, varying from hereditary...

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Source

Identifiers

PMID: 29361379
DOI: 10.1016/j.ejpn.2017.12.020

Genes

MFN2

Provenance

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

Source receipt: pubmed, retrieved 6 Sept 2026.

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