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Article

Novel variants and rare clinical presentations in MFN2-related Charcot-Marie-Tooth disease: Insights from 10 families.

Revue neurologique - 1 Sept 2026

Gharebaghian H, Ravanbod M, Ghasemi A, Okhovat A Asghar, Nafissi S, Alavi A

Abstract excerpt

BACKGROUND: Charcot-Marie-Tooth disease (CMT) is a genetically heterogeneous group of inherited neuropathies, and MFN2-related CMT is a common CMT subtype. In this study, we described 13 affected individuals from 10 unrelated Iranian families harboring MFN2 variants. METHODS AND RESULTS: A total of 10 families (13 individuals) affected with MFN2-related CMT were recruited from a large CMT cohort, after whole...

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Identifiers

PMID: 42236346
DOI: 10.1016/j.neurol.2026.04.008

Genes

MFN2
AR

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

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