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Article

Clinical and genetic features of a cohort of patients with MFN2-related neuropathy.

Scientific reports - 13 Apr 2022

Abati Elena, Manini Arianna, Velardo Daniele, Del Bo Roberto, Napoli Laura, Rizzo Federica, Moggio Maurizio, Bresolin Nereo, Bellone Emilia, Bassi Maria Teresa, D'Angelo Maria Grazia, Comi Giacomo Pietro, Corti Stefania

Abstract excerpt

Charcot-Marie-Tooth disease type 2A (CMT2A) is a rare inherited axonal neuropathy caused by mutations in MFN2 gene, which encodes Mitofusin 2, a transmembrane protein of the outer mitochondrial membrane. We performed a cross-sectional analysis on thirteen patients carrying mutations in MFN2, from ten families, describing their clinical and genetic characteristics. Evaluated patients presented a variable age of...

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Identifiers

PMID: 35418194
DOI: 10.1038/s41598-022-10220-0
PMCID: PMC9008012

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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