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Charcot-Marie-tooth disease type 2A: An update on pathogenesis and therapeutic perspectives.

Neurobiology of disease - 1 Apr 2024

Alberti Claudia, Rizzo Federica, Anastasia Alessia, Comi Giacomo, Corti Stefania, Abati Elena

Abstract excerpt

Mutations in the gene encoding MFN2 have been identified as associated with Charcot-Marie-Tooth disease type 2A (CMT2A), a neurological disorder characterized by a broad clinical phenotype involving the entire nervous system. MFN2, a dynamin-like GTPase protein located on the outer mitochondrial membrane, is well-known for its involvement in mitochondrial fusion. Numerous studies have demonstrated its...

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PMID: 38452947
DOI: 10.1016/j.nbd.2024.106467

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