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Article

Charcot-Marie-Tooth type 2A in vivo models: Current updates.

Journal of cellular and molecular medicine - 1 May 2024

Abati Elena, Rizzuti Mafalda, Anastasia Alessia, Comi Giacomo Pietro, Corti Stefania, Rizzo Federica

Abstract excerpt

Charcot-Marie-Tooth type 2A (CMT2A) is an inherited sensorimotor neuropathy associated with mutations within the Mitofusin 2 (MFN2) gene. These mutations impair normal mitochondrial functioning via different mechanisms, disturbing the equilibrium between mitochondrial fusion and fission, of mitophagy and mitochondrial axonal transport. Although CMT2A disease causes a significant disability, no resolutive...

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Identifiers

PMID: 38722298
DOI: 10.1111/jcmm.18293
PMCID: PMC11081012

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