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Mitochondrial DNA Part A
DNA Mapping, Sequencing, and Analysis
Volume 30, 2019 - Issue 8
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Research Articles

Performance of the MLPA technique for detecting common mutations in Leber hereditary optic neuropathy

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Pages 819-824 | Received 14 Jul 2019, Accepted 13 Sep 2019, Published online: 28 Sep 2019

References

  • Giordano C, Montopoli M, Perli E, Orlandi M, Fantin M, Ross-Cisneros FN, Caparrotta L, Martinuzzi A, Ragazzi E, Ghelli A, et al. 2011. Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. Brain. 134(1):220–234.
  • Kim US, Jurkute N, Yu-Wai-Man P. 2018. Leber hereditary optic neuropathy-light at the end of the tunnel? Asia Pac J Ophthalmol (Phila). 7(4):242–245.
  • Man PYW, Turnbull DM, Chinnery PF. 2002. Leber hereditary optic neuropathy. J Med Genet. 39(3):162–169.
  • Martins FTA, Miranda P, Fernandes MSA, Maciel-Guerra AT, Sartorato EL. 2017. Optimization of a genotyping screening based on hydrolysis probes to detect the main mutations related to Leber hereditary optic neuropathy (LHON). Mol Vis. 23:495–503.
  • Mashima Y, Kigasawa K, Wakakura M, Oguchi Y. 2000. Do idebenone and vitamin therapy shorten the time to achieve visual recovery in Leber hereditary optic neuropathy? J Neuroophthalmol. 20(3):166–170.
  • Mayorga L, Laurito SR, Loos MA, Eiroa HD, de Pinho S, Lubieniecki F, Arroyo HA, Pereyra MF, Kauffman MA, Roque M. 2016. Mitochondrial DNA deletions detected by multiplex ligation-dependent probe amplification. Mitochondrial DNA A DNA Mapp Seq Anal. 27(4):2864–2867.
  • Meyerson C, Van Stavern G, McClelland C. 2015. Leber hereditary optic neuropathy: current perspectives. Clin Ophthalmol. 9:1165–1176.
  • Miranda PM, Matilde da Silva-Costa S, Balieiro JC, Fernandes MS, Alves RM, Guerra AT, Marcondes AM, Sartorato EL. 2016. Multiplex MALDI-TOF MS detection of mitochondrial variants in Brazilian patients with hereditary optic neuropathy. Mol Vis. 22:1024–1035.
  • Newman NJ. 2012. Treatment of hereditary optic neuropathies. Nat Rev Neurol. 8(10):545–556.
  • Phasukkijwatana N, Chuenkongkaew WL, Suphavilai R, Suktitipat B, Pingsuthiwong S, Ruangvaravate N, Atchaneeyasakul LO, Warrasak S, Poonyathalang A, Sura T, et al. 2006. The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees. J Hum Genet. 51(4):298–304.
  • Pilz YL, Bass SJ, Sherman J. 2017. A review of mitochondrial optic neuropathies: from inherited to acquired forms. J Optom. 10(4):205–214.
  • Puomila A, Hamalainen P, Kivioja S, Savontaus ML, Koivumaki S, Huoponen K, Nikoskelainen E. 2007. Epidemiology and penetrance of Leber hereditary optic neuropathy in Finland. Eur J Hum Genet. 15(10):1079–1089.
  • Salas PC, Milla CP, Montiel JL, Benito C, Freire SF, Siles JL. 2016. Leber hereditary optic neuropathy: usefulness of next generation sequencing to study mitochondrial mutations on apparent homoplasmy. Med Clin (Barc). 146(4):163–166.
  • Spruijt L, Kolbach DN, de Coo RF, Plomp AS, Bauer NJ, Smeets HJ, de Die-Smulders CE. 2006. Influence of mutation type on clinical expression of Leber hereditary optic neuropathy. Am J Ophthalmol. 141(4):676–682.
  • Tharaphan P, Chuenkongkaew WL, Luangtrakool K, Sanpachudayan T, Suktitipat B, Suphavilai R, Srisawat C, Sura T, Lertrit P. 2006. Mitochondrial DNA haplogroup distribution in pedigrees of Southeast Asian G11778A Leber hereditary optic neuropathy. J Neuroophthalmol. 26(4):264–267.
  • Yu-Wai-Man P, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. 2003. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet. 72(2):333–339.
  • Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. 2008. Inherited mitochondrial optic neuropathies. J Med Genet. 46(3):145–158.

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