[1] Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet, 2009, 46(3): 145–158. <\p>
[2] 王燕, 郭向明, 贾小云, 黎仕强, 肖学珊, 郭莉, 张清炯. 中国人Leber遗传性视神经病变的原发突变及临床特征. 中华医学遗传学杂志, 2005, 22(3): 334–336. <\p>
[3] Qu J, Zhou X, Zhao F, Liu X, Zhang M, Sun YH, Liang M, Yuan M, Liu Q, Tong Y, Wei QP, Yang L, Guan MX. Low penetrance of Leber's hereditary optic neuropathy in ten Han Chinese families carrying the ND6 T11484C mu-tation. Biochim Biophys Acta, 2010, 1800(3): 305–312. <\p>
[4] Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK. Mitochon-drial DNA mutation associated with Leber’s hereditary optic neuropathy. Science, 1988, 242(4884): 1427–1430. <\p>
[5] MITOMAP: A Human Mitochondrial Genome Database. http://www.mitomap.org, 2009. <\p>
[6] Zhang M, Zhou X, Li C, Zhao F, Zhang J, Yuan M, Sun YH, Wang J, Tong Y, Liang M, Yang L, Cai W, Wang L, Qu J, Guan MX. Mitochondrial haplogroup M9a specific variant ND1 T3394C may have a modifying role in the phenotypic expression of the LHON-associated ND4 G11778A mutation. Mol Gene Metab, 2010, 101(2–3): 192–199. <\p>
[7] Zhou X, Qian Y, Zhang J, Tong Y, Jiang P, Liang M, Dai X, Zhou H, Zhao F, Ji Y, Mo JQ, Qu J, Guan MX. Leber's hereditary optic neuropathy is associated with the T3866C mutation in mitochondrial ND1 gene in three Han Chi-nese Families. Invest Ophthalmol Vis Sci, 2012, 53(8): 4586–4594. <\p>
[8] 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. <\p>
[9] 周晖晖, 戴显宁, 林蓓, 米慧, 刘晓玲, 赵福新, 张娟娟, 周翔天, 孙艳红, 韦企平, 瞿佳, 管敏鑫. 7例携带线粒体tRNAAla C5601T突变的Leber遗传性视神经病变家系的相关研究. 遗传, 2012, 34(8): 1031–1042. <\p>
[10] Qu J, Li R, Zhou X, Tong Y, Yang L, Chen J, Zhao F, Lu C, Qian Y, 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. <\p>
[11] 冀延春, 刘晓玲, 赵福新, 张娟娟, 章豫, 周翔天, 瞿佳, 管敏鑫. 线粒体T12338C突变可能是与Leber遗传性视神经病变相关的突变位点. 遗传, 2011, 33(4): 322–328. <\p>
[12] Zhang JJ, Zhou XT, Zhou J, Li CW, Zhao FX, Wang Y, Meng YZ, Wang JY, Yuan MX, Cai WS, Tong Y, Sun YH, Yang L, Qu J, Guan MX. Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON- associated G11778A mutation in four Chinese families. Biochem Biophys Res Commun, 2010, 399(4): 647–653. <\p>
[13] Tong Y, Mao Y, Zhou X, Yang L, Zhang J, Cai W, Zhao F, Wang X, Lu F, Qu J, Guan MX. The mitochondrial tRNA-Glu A14693G mutation may influence the phenotypic manifestation of ND1 G3460A mutation in a Chinese fam-ily with Leber’s hereditary optic neuropathy. Biochem Biophys Res Commun, 2007, 357(2): 524–530. <\p>
[14] 张永梅, 冀延春, 刘晓玲, 周翔天, 赵福新, 孙艳红, 韦企平, 张娟娟, 刘燕, 瞿佳, 管敏鑫. 线粒体tRNAGlu A14693G可能是与Leber遗传性视神经病变相关的基因突变. 遗传, 2010, 32(4): 353–359. <\p>
[15] Li RH, Qu J, Zhou XT, Tong Y, Hu YW, Qian YP, Lu F, Mo JQ, West CE, Guan MX. The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expres-sion of the LHON-associated ND4 G11778A mutation in a Chinese family. Gene, 2006, 376(1): 79–86. <\p>
[16] Newman N J. Leber hereditary optic neuropathy: bad hab-its, bad vision. Brain, 2009, 132(Pt 9): 2306–2308. <\p>
[17] Kirkman MA, Yu-Wai-Man P, Korsten A, Leonhardt M, Dimitriadis K, De Coo IF, Klopstock T, Chinnery PF. Gene environment interactions in Leber hereditary optic neuropathy. Brain, 2009, 132(Pt 9): 2317–2326. <\p>
[18] Charlmers RM, Harding AE. A case-contr |