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Case report

A Japanese Case of Leber’s Hereditary Optic Neuropathy with the m.13051G>A Pathogenic Variant

ORCID Icon, , , , , & show all
Pages 51-55 | Received 29 Jun 2023, Accepted 09 Oct 2023, Published online: 31 Oct 2023

References

  • Nakamura M, Mimura O, Wakakura M, Inatani M, Nakazawa T, Shiraga F. Designation criteria for leber’s hereditary optic neuropathy. Nihon Ganka Gakkai Zasshi. 2015;119:339–346.
  • Dai Y, Wang C, Nie Z, et al. Mutation analysis of leber’s hereditary optic neuropathy using a multi-gene panel. Biomed Rep. 2018;8(1):51–58. doi:10.3892/br.2017.1014.
  • Howell N, Oostra R, Bolhuis PA, et al. Sequence analysis of the mitochondrial genomes from Dutch pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet. 2003;72(6):1460–1469. doi:10.1086/375537.
  • Dombi E, Diot A, Morten K, et al. The m.13051G>A mitochondrial DNA mutation results in variable neurology and activated mitophagy. Neurology. 2016;86(20):1921–1923. doi:10.1212/WNL.0000000000002688.
  • Smirnov VM, Cuisset JM, Marks C, Debruyne P, Dhaenens CM, Defoort-Dhellemmes S. Variable presentation of Leber hereditary optic neuropathy in children of a family harboring a rare m.13051G>A mtDNA mutation. J Neuroophthalmol. 2020;40(4):569–571. doi:10.1097/WNO.0000000000001083.
  • Lenaers G, Beaulieu C, Charif M, Gerber S, Kaplan J, Rozet JM. Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm. Brain. 2023;146(8):3156–3161. doi:10.1093/brain/awad131.

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