MFN2 gene


Gene (OMIM No.)
Function of gene/protein
  • Mitofusin 2
  • Involved in mitochondrial fusion and maintenance
Clinical phenotype
(OMIM phenotype no.)
  • Charcot-Marie-Tooth disease type 2A (CMT2A) (#609260)
  • Autosomal dominant
Ocular features
  • Optic atrophy
Visual function
  • Progressive vision loss
Systemic features
  • Peripheral neuropathy
  • Muscle weakness and atrophy
Key investigations
  • Genetic testing: identification of MFN2 mutations
  • Nerve conduction studies
  • Supportive care including physical therapy
  • Regular neurological and ophthalmological follow-up
Therapies under research
  • None currently specified

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  1.  Rouzier C, Bannwarth S, Chaussenot A, Chevrollier A, Verschueren A, Bonello-Palot N, Fragaki K, Cano A, Pouget J, Pellissier JF, Procaccio V. The MFN2 gene is responsible for mitochondrial DNA instability and optic atrophy ‘plus’ phenotype. Brain. 2012 Jan 1;135(1):23-34.

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Updated on July 5, 2024
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