Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA

Brown, 2001, Clinical, genetic, and biochemical characterization of a Leber hereditary optic neuropathy family containing both the 11778 and 14484 mutations, Am. J. Med. Genet., 104, 331, 10.1002/1096-8628(20011215)104:4<331::AID-AJMG10054>3.0.CO;2-W Cruz-Bermúdez, 2016, Functional characterization of three concomitant mtDNA LHON mutations shows no synergistic effect on mitochondrial activity, PLoS One, 11, e0146816, 10.1371/journal.pone.0146816 Haefeli, 2011, NQO1-dependent redox cycling of idebenone: effects on cellular redox potential and energy levels, PLoS One, 6, 10.1371/journal.pone.0017963 Harding, 1995, Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation, Am. J. Hum. Genet., 57, 77 Howell, 2002, Lightning strikes twice: Leber hereditary optic neuropathy families with two pathogenic mtDNA mutations, J. Neuroophthalmol., 22, 262, 10.1097/00041327-200212000-00002 Invernizzi, 2012, Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells, Mitochondrion, 12, 328, 10.1016/j.mito.2012.01.001 Riordan-Eva, 1995, Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations, J. Med. Genet., 32, 81, 10.1136/jmg.32.2.81 Riordan-Eva, 1995, The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation, Brain, 118, 319, 10.1093/brain/118.2.319 Smith, 1994, Platelet mitochondrial function in Leber's hereditary optic neuropathy, J. Neurol. Sci., 122, 80, 10.1016/0022-510X(94)90055-8 Tonska, 2008, A family with 3460G>A and 11778G>A mutations and haplogroup analysis of Polish Leber hereditary optic neuropathy patients, Mitochondrion, 8, 383, 10.1016/j.mito.2008.08.002 Yu-Wai-Man, 2016, Reply: parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion, Brain, 139 Yu-Wai-Man, 2002, Leber hereditary optic neuropathy, J. Med. Genet., 39, 162, 10.1136/jmg.39.3.162