Nationwide Characterization of MFN2-Related CMT in 176 Japanese Patients: Clinical and Genetic Insights.

ABSTRACT:

Background

Mitofusin 2 (MFN2) is a major causative gene for axonal Charcot - Marie - Tooth disease type 2A (CMT2A), with a wide phenotypic spectrum. Comprehensive large - scale genotype - phenotype association studies are essential for understanding disease pathogenesis and improved clinical management.

Methods

We conducted a nationwide retrospective study of 176 Japanese patients with genetically confirmed pathogenic or likely pathogenic MFN2 variants encompassing clinical, electrophysiological, and genetic characterization.

Results

MFN2 was the second most frequent causative gene among 1211 genetically diagnosed inherited peripheral neuropathy cases in Japan. A total of 76 MFN2 variants were identified, including nine novel likely pathogenic variants. Disease onset

SUBMITTER: Ando M 

PROVIDER: S-EPMC12790173 | biostudies-literature | 2026 Jan

REPOSITORIES: biostudies-literature