[1] Man PYW, Turnbull DM, Chinnery PF. Leber hereditary optic neuropathy. J Med Genet, 2002, 39(3): 162-169.[2] Carelli V, Ross-Cisneros FN, Sadun AA. Mitochondrial dysfunction as a cause of optic neuropathies. Prog Retin Eye Res, 2004, 23(1): 53-89.[3] Yen MY, Wang AG, Wei YH. Leber's hereditary optic neuropathy: a multifactorial disease. Prog Retin Eye Res, 2006, 25(4): 381-396.[4] Yu-Wai-Man P, Griffiths PG, Hudson G, Chinnery PF. Inherited mitochondrial optic neuropathies. J Med Genet, 2009, 46(3): 145-158.[5] Erickson RP. Leber's optic atrophy, a possible example of maternal inheritance. Am J Hum Genet, 1972, 24(3): 348- 349.[6] Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK. Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy. Science, 1988, 242(4884): 1427-1430.[7] Mackey D, Howell N. A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology. Am J Hum Genet, 1992. 51(6): 1218-1228.[8] Huoponen K, Vilkki J, Aula P, Nikoskelainen EK, Savontaus ML. A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy. Am J Hum Genet, 1991, 48(6): 1147-1153.[9] Howell N, Bindoff LA, McCullough DA, Kubacka I, Poulton J, Mackey D, Taylor L, Turnbull DM. Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet, 1991, 49(5): 939-950.[10] 张志平, 张丽珊, 黄鹰, 王世浚, 李方园, 童绎, 高静娟, 朱斌. Leber氏病的mtDNA突变. 遗传, 1992, 14(2): 21-23.[11] 冯雪梅, 高殿文, 张巍. 散发性Leber遗传性视神经病的基因诊断. 遗传, 2000, 22(1): 19-20.[12] 林玲, 陈贻锴, 童绎, 郑志竑, 林建银, 朱进伟. Leber遗传性视神经病变家系的线粒体基因突变分析. 遗传, 2003, 25(3): 267-270.[13] 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.[14] 郭向明, 贾小云, 肖学珊, 郭莉, 黎仕强, 张清炯. 中国人Leber遗传性视神经病变线粒体DNA突变频谱. 中华眼底病杂志, 2003, 19(5): 288-291.[15] Seedorff T. The inheritance of Leber's disease. A genealogical follow-up study. Acta Ophthalmol (Copenh), 1985, 63(2): 135-145.[16] Harding AE, Sweeney MG, Govan GG, Riordan-Eva P. Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation. Am J Hum Genet, 1995, 57(1): 77-86.[17] Riordan-Eva PHarding AE. Leber's hereditary optic neuropathy: the clinical relevance of different mitochondrial DNA mutations. J Med Genet, 1995, 32(2): 81-87.[18] Nikoskelainen EK, Huoponen K, Juvonen V, Lamminen T, Nummelin K, Savontaus ML. Ophthalmologic findings in Leber hereditary optic neuropathy, with special reference to mtDNA mutations. Ophthalmology, 1996, 103(3): 504-514.[19] La Morgia C, Achilli A, Iommarini L, Barboni P, Pala M, Olivieri A, Zanna C, Vidoni S, Tonon C, Lodi R, Vetrugno R, Mostacci B, Liguori R, Carroccia R, Montagna P, Rugolo M, Torroni A, Carelli V. Rare mtDNA variants in Leber hereditary optic neuropathy families with recurrence of myoclonus. Neurology, 2008, 70(10): 762-770.[20] Jaros E, Mahad DJ, Hudson G, Birchall D, Sawcer SJ, Griffiths PG, Sunter J, Compston DA, Perry RH, Chinnery PF. Primary spinal cord neurodegeneration in Leber hereditary optic neuropathy. Neurology, 2007, 69(2): 214-216.[21] Sorajja P, Sweeney MG, Chalmers R, Sachdev B, Syrris P, Hanna M, Wood ND, McKenna WJ, Elliott PM. Cardiac abnormalities in patients with Leber's hereditary optic neuropathy. Heart, 2003, 89(7): 791-792.[22] Ferré M, Bonneau D, Milea D, Chevrollier A, Verny C, Dollfus H, Ayuso C, Defoort S, Vignal C, Zanlonghi X, Charlin JF, Kaplan J, Odent S, Hamel CP, Procaccio V, Reynier P, Amati-Bonneau P. Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat, 2009, 30(7): E692-E705.
|