[1] Man PY, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet, 2002, 39(3): 162–169. [2] Qu J, Guan MX. Molecular pathogenetic mechanism of Leber’s hereditary optic neuropathy. Chin J Optometry Ophthalmol, 2006, 8(6): 341–348. [3] Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ, Nikoskelainen EK. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science, 1988, 242(4884): 1427–1430. [4] MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org. [5] Brown MD, Torroni A, Reckord CL, Wallace DC. Phy-logenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent oc-currences of the common mutations. Hum Mutat, 1995, 6(4): 311–325. [6] Mackey DA, Oostra RJ, Rosenberg T, Nikoskelainen E, Bronte-Stewart J, Poulton J, Harding AE, Govan G, Bol-huis PA, Norby S, Bleeker-Wagemakers EM, Savontaus ML, Cahn C, Howell N. Primary pathogenic mtDNA mu-tations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet, 1996, 59(2): 481–485. [7] Mashima Y, Yamada K, Wakakura M, Kigasawa K, Ku-doh J, Shimizu N, Oguchi Y. Spectrum of pathogenic mi-tochondrial DNA mutations and clinical features in Japa-nese families with Leber’s hereditary optic neuropathy. Curr Eye Res, 1998, 17(4): 403–408. [8] Man PY, Griffiths PG, Brown DT, Howell N, Turnbull DM, Chinnery PF. The epidemiology of Leber hereditary optic neuropathy in the North East of England. Am J Hum Genet, 2003, 72(2): 333–339. [9] Qu J, Li RH, Zhou XT, Tong Y, Lu F, Qian YP, Hu YW, Mo JQ, West CE, Guan MX. The novel A4435G mutation in the mitochondrial tRNAMet may modulate the pheno-typic expression of the LHON-associated ND4 G11778A mutation. Invest Ophthalmol Vis Sci, 2006, 47(2): 475–483. [10] Qu J, Li RH, Zhou XT, Tong Y, Yang L, Chen J, Zhao FX, Lu CJ, Qian YP, Lu F, Guan MX. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family. Mitochondrion, 2007, 7(1–2): 140–146. [11] Li RH, Qu J, Zhou XT, Tong Y, Hu YW, Qian YP, Lu F, Mo JQ, West CE, Guan MX. The mitochondrial tRNAThrA15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A muta-tion in a Chinese family. Gene, 2006, 376(1): 79–86. [12] Liang M, Guan MQ, Zhao FX, Zhou XT, Yuan MX, Tong Y, Yang L, Wei QP, Sun YH, Lu F, Qu J, Guan MX. Le-ber’s hereditary optic neuropathy is associated with mito-chondrial ND1 T3394C mutation. Biochem Biophys Res Commun, 2009, 383(3): 286–292. [13] 赵福新, 周翔天, 瞿佳, 韦企平, 童绎, 杨丽, 吕建新, 管敏鑫. 中国Leber 遗传性视神经病变G11696A突变的两个家系分析. 中华医学遗传学杂志, 2007, 24(5): 556–559. [14] 刘燕, 庄淑流, 童绎, 瞿佳, 周翔天, 赵福新, 张娟娟, 张永梅, 章豫, 管敏鑫. 线粒体ND1基因T3866C突变可能是Leber’s遗传性视神经病和四肢畸形跛行相关的突变. 遗传, 2010, 32(2): 141–147. [15] Rieder MJ, Taylor SL, Tobe VO, Nickerson DA. Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochon-drial genome. Nucleic Acids Res, 1998, 26(4): 967–973. [16] Andrews RM, Kubacka I, Chinnery PF, Lightowlers RN, Turnbull DM, Howell N. Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA. Nat Genet, 1999, 23(2): 147. [17] Kong QP, Bandelt HJ, Sun C, Yao YG, Salas A, Achilli A, Wang CY, Zhong L , Zhu CL, Wu SF, Torroni A, Zhang YP. Updating the East Asian mtDNA phylogeny: a pre-requisite for the identification of pathogenic mutations. Hum Mol Genet, 2006, 15(13): 2076–2086. [18] Zhou XT, Wei QP, Yang L, Tong Y, Zhao FX, Lu CJ, Qian YP, Sun YG, Lu F, Qu J, Guan MX. Leber’s heredi-tary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families. Biochem Biophys Res Commun, 2006, 340(1): 69–75. [19] Qu J, Li RH, Tong Y, Hu YW, Zhou XT, Qian YP, Lu F, Guan MX. Only male matrilineal relatives with Leber&rsqu
