Mechanisms of disease and clinical features of mutations of the gene for mitofusin 2: an important cause of hereditary peripheral neuropathy with striking clinical variability in children and adults.

Abstract excerpt

Mitofusin 2, a large transmembrane GTPase located in the outer mitochondrial membrane, promotes membrane fusion and is involved in the maintenance of the morphology of axonal mitochondria. Mutations of the gene encoding mitofusin 2 (MFN2) have recently been identified as the cause of approximately one-third of dominantly inherited cases of the axonal degenerative forms of Charcot-Marie-Tooth disease (CMT type 2A)...

Topics

• Adolescent
• Adult
• Charcot-Marie-Tooth Disease
• Child
• GTP Phosphohydrolases
• Genetic Predisposition to Disease
• Humans
• Membrane Proteins
• Mitochondrial Proteins
• Mutation