Article

Gene therapy-mediated overexpression of wild-type MFN2 improves Charcot-Marie-Tooth disease type 2A

2025-10-15

Abstract excerpt

Charcot-Marie-Tooth disease type 2A (CMT2A) is the most common axonal CMT and is associated with an early onset and severe motor-dominant phenotype. CMT2A is mainly caused by dominant mutations in the MFN2 gene, encoding Mitofusin-2, a GTPase located in the outer membrane of the mitochondria and endoplasmic reticulum (ER). Mutations in MFN2 are known to affect mitochondrial dynamics. We previously demonstrated t...

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Literature Corpus work: 944e851a-47f4-5cd4-a558-6430b38a0d57
DOI: 10.1101/2025.10.15.682364

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