| 1 | LHON, MT-ND5
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| Mitochondrial DNA mutation m.10680G > A is associated with Leber hereditary optic neuropathy in Chinese patients.
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| Zhang AM, Jia X, Guo X, Zhang Q, Yao YG.
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| J Transl Med 10:43. doi: 10.1186/1479-5876-10-43.
2012
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| 2 | LHON, MT-ND1
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| Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.
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| Tong Y, Sun YH, Zhou X, Zhao F, Mao Y, Wei QP, Yang L, Qu J, Guan MX.
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| Mol Genet Metab 99(4):417-24. Epub 2010 Jan 6.
2010
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| 3 | LHON, MT-ND1, MT-ND5
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| The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.
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| Zou Y, Jia X, Zhang AM, Wang WZ, Li S, Guo X, Kong QP, Zhang Q, Yao YG.
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| Biochem Biophys Res Commun 399(2):179-85. Epub 2010 Jul 17.PMID: 20643099 2010
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| 4 | LHON, MT-ND1
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| Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.
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| Liang M, Guan M, Zhao F, Zhou X, Yuan M, Tong Y, Yang L, Wei QP, Sun YH, Lu F, Qu J, Guan MX.
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| Biochem Biophys Res Commun 383(3):286-92. Epub 2009 Mar 24.
2009
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| 5 | LHON, MT-ND1
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| Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation.
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| Yang J, Zhu Y, Tong Y, Chen L, Liu L, Zhang Z, Wang X, Huang D, Qiu W, Zhuang S, Ma X.
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| Biochem Biophys Res Commun 386(1):50-4. Epub 2009 Jun 2.
2009
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| 6 | LHON, MT-ND1
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| Leber's hereditary optic neuropathy is associated with mitochondrial ND6 T14502C mutation.
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| Zhao F, Guan M, Zhou X, Yuan M, Liang M, Liu Q, Liu Y, Zhang Y, Yang L, Tong Y, Wei QP, Sun YH, Qu J, Guan MX.
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| Biochem Biophys Res Commun iochem Biophys Res Commun. 2009 Sep 2. [Epub ahead of print]
2009
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| 7 | LHON, MT-ND1
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| Novel A14841G mutation is associated with high penetrance of LHON/C4171A family.
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| Yang J, Zhu Y, Chen L, Zhang H, Tong Y, Huang D, Zhang Z, Chen S, Han X, Ma X.
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| Biochem Biophys Res Commun 386(4):693-6. Epub 2009 Jun 23.PMID: 19555656 2009
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| 8 | LHON, MELAS, MERRF, NARP
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| Identification of novel mutations in five patients with mitochondrial encephalomyopathy.
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| Valente L, Piga D, Lamantea E, Carrara F, Uziel G, Cudia P, Zani A, Farina L, Morandi L, Mora M, Spinazzola A, Zeviani M, Tiranti V.
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| Biochim Biophys Acta iochim Biophys Acta. 2008 Oct 15. [Epub ahead of print]
2008
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| 9 | LHON
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| Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease.
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| Pello R, Martín MA, Carelli V, Nijtmans LG, Achilli A, Pala M, Torroni A, Gómez-Durán A, Ruiz-Pesini E, Martinuzzi A, Smeitink JA, Arenas J, Ugalde C.
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| Hum Mol Genet 17(24):4001-11. Epub 2008 Sep 19.
2008
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| 10 | LHON, MT-ND6
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| Leber hereditary optic neuropathy mutations in the ND6 subunit of mitochondrial complex I affect ubiquinone reduction kinetics in a bacterial model of the enzyme.
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| Pätsi J, Kervinen M, Finel M, Hassinen IE.
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| Biochem J 409(1):129-37.PMID: 17894548 2008
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| 11 | LHON
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| mtDNA haplogroup distribution in Chinese patients with Leber's hereditary optic neuropathy and G11778A mutation.
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| Ji Y, Jia X, Zhang Q, Yao YG.
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| Biochem Biophys Res Commun 364(2):238-42. Epub 2007 Oct 2. 2007
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| 12 | LHON, MT-ND4, MT-ND6
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| Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees.
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| Carelli V, Achilli A, Valentino ML, Rengo C, Semino O, Pala M, Olivieri A, Mattiazzi M, Pallotti F, Carrara F, Zeviani M, Leuzzi V, Carducci C, Valle G, Simionati B, Mendieta L, Salomao S, Belfort R Jr, Sadun AA, Torroni A.
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| Am J Hum Genet 78(4):564-74. Epub 2006 Jan 27. 2006
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| 13 | MT-ND4, LHON
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| Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.
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| Zhou X, Wei Q, Yang L, Tong Y, Zhao F, Lu C, Qian Y, Sun Y, Lu F, Qu J, Guan MX.
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| Biochem Biophys Res Commun 340(1):69-75. Epub 2005 Dec 6. 2006
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| 14 | LHON
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| Leber's hereditary optic neuropathy with dystonia in a Japanese family.
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| Watanabe M, Mita S, Takita T, Goto Y, Uchino M, Imamura S.
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| J Neurol Sci 243(1-2):31-4. Epub 2005 Dec 27. 2006
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| 15 | LHON
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| The unique characteristics of Thai Leber hereditary optic neuropathy: analysis of 30 G11778A pedigrees.
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| Phasukkijwatana N, Chuenkongkaew WL, Suphavilai R, Suktitipat B, Pingsuthiwong S, Ruangvaravate N, Atchaneeyasakul LO, Warrasak S, Poonyathalang A, Sura T, Lertrit P.
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| J Hum Genet 51(4):298-304. Epub 2006 Feb 14. 2006
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| 16 | LHON, MELAS, MT-ND1
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| LHON/MELAS overlap syndrome associated with a mitochondrial MTND1 gene mutation.
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| Blakely EL, de Silva R, King A, Schwarzer V, Harrower T, Dawidek G, Turnbull DM, Taylor RW.
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| Eur J Hum Genet 13(5):623-7. 2005
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| 17 | LHON
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| A Fille du Roy Introduced the T14484C Leber Hereditary Optic Neuropathy Mutation in French Canadians.
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| Laberge AM, Jomphe M, Houde L, Vezina H, Tremblay M, Desjardins B, Labuda D, St-Hilaire M, Macmillan C, Shoubridge EA, Brais B.
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| Am J Hum Genet 77(2):313-7. Epub 2005 Jun 13. 2005
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| 18 | LHON, MT-ND4
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| Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy.
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| Qian Y, Zhou X, Hu Y, Tong Y, Li R, Lu F, Yang H, Mo JQ, Qu J, Guan MX.
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| Biochem Biophys Res Commun 332(2):614-21. 2005
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| 19 | LHON, MT-ND6
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| A novel mtDNA ND6 gene mutation associated with LHON in a Caucasian family.
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| Zhadanov SI, Atamanov VV, Zhadanov NI, Oleinikov OV, Osipova LP, Schurr TG.
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| Biochem Biophys Res Commun 332(4):1115-21. 2005
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| 20 | LHON, MT-ND6
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| Mitochondrial DNA nucleotide changes C14482G and C14482A in the ND6 gene are pathogenic for Leber's hereditary optic neuropathy.
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| Valentino ML, Avoni P, Barboni P, Pallotti F, Rengo C, Torroni A, Bellan M, Baruzzi A, Carelli V.
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| Ann Neurol 51(6):774-8. 2002
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| 21 | LHON
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| Predominance of the T14484C mutation in French-Canadian families with Leber hereditary optic neuropathy is due to a founder effect.
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| Macmillan C, Johns TA, Fu K, Shoubridge EA.
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| Am J Hum Genet 66(1):332-5. No abstract available. 2000
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| 22 | LHON
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| Functional consequences of the 3460-bp mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
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| Cock HR, et al.
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| J Neurol Sci 165(1):10-7 1999
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| 23 | LHON
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| Meiotic breakpoint mapping of a proposed X linked visual loss susceptibility locus in Leber's hereditary optic neuropathy.
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| Handoko HY, et al.
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| J Med Genet 35 : 668-671. 1998
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| 24 | LHON
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| Is the mitochondrial DNA involved in determining susceptibility to multiple sclerosis ?
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| Kalman B, Alder H.
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| Acta Neurol Scand 98 : 232-237. 1998
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| 25 | LHON
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| Lober's hereditary optic neuropathy (LHON) with 14484/ND6 mutation in a North African patient.
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| Carelli V, et al.
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| J Neurol Sci 160 : 183-188. 1998
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| 26 | WFSMT, LHON
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| Wolfram (DIDMOAD) syndrome and Leber hereditary optic neuropathy (LHON) are associated with distinct mitochondrial DNA haplotypes.
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| Hofmann S, et al.
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| Genomics 39 : 8-18. 1997
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| 27 | LHON
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| Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage.
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| Brown MD, et al.
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| Am J Hum Genet 60 : 381-387. 1997
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| 28 | LHON
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| Mutation analysis of the ND6 gene in patients with Lebers hereditary optic neuropathy.
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| Wissinger B, Besch D, Baumann B, Fauser S, Christ-Adler M, Jurklies B, Zrenner E, Leo-Kottler B.
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| Biochem Biophys Res Commun 234(2):511-5. 1997
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| 29 | LHON
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| Longitudinal study of a heteroplasmic 3460 leber hereditary optic neuropathy family by multiplexed primer-extension analysis and nucleotide sequencing.
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| Ghosh SS, et al.
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| Am J Hum Genet 58 : 325-334. 1996
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| 30 | LHON
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| Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia.
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| Jun AS, et al.
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| Mol Cell Biol 16 : 771-777. 1996
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| 31 | LHON
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| X-inactivation patterns in female Leber's hereditary optic neuropathy patients do not support a strong X-linked determinant.
|
| Pegoraro E, et al.
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| Am J Med Genet 61 : 356-362. 1996
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| 32 | LHON
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| Evidence against an X-linked visual loss susceptibility locus in Leber hereditary optic neuropathy.
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| Chalmers RM, et al.
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| Am J Hum Genet 59 : 103-108. 1996
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| 33 | LHON
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| Hereditary cerebellar ataxia with Leber's hereditary optic neuropathy mitochondrial DNA 11778 mutation.
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| Murakami T, et al.
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| J Neurol Sci 142 : 111-113. 1996
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| 34 | LHON, MT-ND4
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| Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.
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| De Vries DD, Went LN, Bruyn GW, Scholte HR, Hofstra RM, Bolhuis PA, van Oost BA.
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| Am J Hum Genet 58(4):703-11. 1996
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| 35 | LHON
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| Leber's hereditary optic neuropathy plus dystonia is caused by a mitochondrial DNA point mutation.
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| Shoffner JM, et al.
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| Ann Neurol 38 : 163-169. 1995
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| 36 | LHON
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| Simultaneous occurrence of the 11778 (ND4) and the 9438 (COX III) mtDNA mutations in Leber hereditary optic neuropathy : molecular, biochemical and clinical findings.
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| Oostra RJ, et al.
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| Am J Hum Genet 57 : 954-957. 1995
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| 37 | LHON
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| Neurological disorders in members of families with Leber's hereditary optic neuropathy (LHON) caused by different mitochondrial mutations.
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| Meire FM, et al.
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| Ophthalmic Genet 16 : 119-126. 1995
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| 38 | LHON
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| The mitochondrial DNA mutation ND6*14,484C associated with Leber hereditary optic neuropathy, leads to deficiency of complex I of the respiratory chain.
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| Oostra RJ, et al.
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| Biochem Biophys Res Commun 215 : 1001-1005. 1995
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| 39 | LHON
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| A mitochondrial mutation at nt 9101 in the ATP synthase 6 gene associated with deficient oxidative phosphorylation in a family with Leber hereditary optic neuroretinopathy.
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| Lamminen T, et al.
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| Am J Hum Genet 56 : 1238-1240. 1995
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| 40 | LHON
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| Pedigree analysis in Leber hereditary optic neuropathy families with a pathogenic mtDNA mutation.
|
| Harding AE, et al.
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| Am J Hum Genet 57 : 77-86. 1995
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| 41 | LHON
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| Leber's hereditary optic neuropathy : correlations between mitochondrial genotype and visual outcome.
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| Oostra RJ, et al.
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| J Med Genet 31 : 280-286. 1994
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| 42 | LHON
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| Features of mtDNA mutation patterns in European pedigrees and sporadic cases with leber hereditary optic neuropathy.
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| Obermaier-Kusser B, et al.
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| Am J Hum Genet 55 : 1063-1066. 1994
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| 43 | LHON
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| Functional alterations of the mitochondrially encoded ND4 subunit associated with Leber's hereditary optic neuropathy.
|
| Degli Esposti M, et al.
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| FEBS Lett 352 : 375-379. 1994
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| 44 | LHON
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| Cytochrome c oxidase mutations in leber hereditary optic neuropathy.
|
| Johns DR, et al.
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| Biochem Biophys Res Commun 196 : 810-815. 1993
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| 45 | LHON
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| The two locus control of Leber hereditary optic neuropathy and high penetrance in Japanese pedigrees.
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| Nakamura M, et al.
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| Hum Genet 91 : 339-341. 1993
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| 46 | LHON
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| The spectrum of mitochondrial DNA mutations in families with leber hereditary optic neuroretinopathy.
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| Huoponen K, et al.
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| Hum Genet 92 : 379-384. 1993
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| 47 | LHON
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| Evidence against an X-linked locus close to DXS7 determining visual loss susceptibility in British and Italian families with Leber hereditary optic neuropathy.
|
| Sweeney MG, et al.
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| Am J Hum Genet 51 : 741-748. 1992
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| 48 | LHON
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| Molecular genetics of Leber's hereditary optic neuropathy : study of a six-generation family from Western Australia.
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| Sudoyo H, et al.
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| J Neurol Sci 108 : 7-17. 1992
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| 49 | LHON
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| A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit 1.
|
| Brown MD, et al.
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| Am J Hum Genet 51 : 378-385. 1992
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| 50 | LHON
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| An ND-6 mitochondrial DNA mutation associated with Leber hereditary optic neuropathy.
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| Johns DR, et al.
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| Biochem Biophys Res Commun 187 : 1551-1557. 1992
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| 51 | LHON
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| A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.
|
| Mackey D, et al.
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| Am J Hum Genet 51 : 1218-1228. 1992
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| 52 | LHON
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| Mitochondrial DNA mutation and heteroplasmy in type I Leber hereditary optic neuropathy.
|
| Zhu D, et al.
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| Am J Med Genet 42 : 173-179. 1992
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| 53 | LHON
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| Leber's hereditary optic neuroretinopathy and the X-chromosomal susceptibility factor. No linkage to DXS7.
|
| Carvalho MRS, et al.
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| Hum Hered 42 : 316-320. 1992
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| 54 | MT-ND2, MT-ND5, LHON
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| Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy.
|
| Brown MD, Voljavec AS, Lott MT, Torroni A, Yang CC, Wallace DC.
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| Genetics 130(1):163-73. 1992
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| 55 | LHON
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| Leber hereditary optic neuropathy : involvement of the mitochondrial NDI gene and evidence for an intragenic suppressor mutation.
|
| Howell N, et al.
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| Am J Hum Genet 48 : 935-942. 1991
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| 56 | LHON
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| Detection of the G to A mitochondrial DNA mutation at position 11778 in German families with Leber's hereditary optic neuropathy.
|
| Kormann BA, et al.
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| Hum Genet 88 : 98-100. 1991
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| 57 | LHON
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| Does an X-linked locus determine visual loss in Leber's hereditary optic neuropathy?
|
| Sweeney MG, et al.
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| (HGM11) Cytogenet Cell Genet 58 : 2086. 1991
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| 58 | LHON
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| Leber hereditary optic neuropathy : identification of the same mitochondrial ND1 mutation in six pedigrees.
|
| Howell N, et al.
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| Am J Hum Genet 49 : 939-950. 1991
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| 59 | LHON
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| X chromosome-linked and mitochondrial gene control of Leber hereditary optic neuropathy : evidence from segregation analysis for dependence on X chromosome inactivation.
|
| Bu X, et al.
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| Proc Natl Acad Sci U S A 88 : 8198-8202. 1991
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| 60 | LHON
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| Cytochrome b mutations in Leber hereditary optic neuropathy.
|
| Johns DR, et al.
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| Biochem Biophys Res Commun 181 : 1358-1364 1991
|
| 61 | LHON
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| A new mtDNA mutation associated with Leber hereditary optic neuroretinopathy.
|
| Huoponen K, et al.
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| Am J Hum Genet 48 : 1147-1153. 1991
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| 62 | LHON
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| Mitochondrial DNA mutation in an Italian family with Leber hereditary optic neuropathy.
|
| Carducci C, et al.
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| Hum Genet 87 : 725-727. 1991
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| 63 | LHON
|
| Mutation detection in Leber's hereditary optic neuropathy by PCR with allele-specific priming.
|
| Nšrby S, et al.
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| Biochem Biophys Res Commun 175 : 631-636. 1991
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| 64 | LHON
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| Optic atrophy in Leber hereditary optic neuroretinopathy is probably determined by an X-chromosomal gene closely linked to DXS7.
|
| Vilkki J, et al.
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| Am J Hum Genet 48 : 486-491. 1991
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| 65 | LHON
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| Analysis of mitochondrial ND4 gene DNA sequence in Finnish families with Leber hereditary optic neuroretinopathy.
|
| Huoponen K, et al.
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| Genomics 8 : 583-585. 1990
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| 66 | LHON
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| Mae III positively detects the mitochondrial mutation associated with type I Leber's hereditary optic neuropathy.
|
| Stone EM, et al.
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| Arch Ophthalmol 108 : 1417-1420. 1990
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| 67 | CEOP, LHON
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| Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.
|
| Mita S, et al.
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| Nucleic Acids Res 18 : 561-567. 1990
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| 68 | LHON
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| An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.
|
| Howell N, et al.
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| Am J Hum Genet 47 : 629-634. 1990
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| 69 | LHON
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| Mitochondrial DNA polymorphism in Finnish families with Leber's hereditary optic neuroretinopathy.
|
| Vilkki J, et al.
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| Hum Genet 82 : 208-212. 1989
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| 70 | LHON
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| Genetic heterogeneity in Leber hereditary optic neuroretinopathy revealed by mitochondrial DNA polymorphism.
|
| Vilkki J, et al.
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| Am J Hum Genet 45 : 206-211. 1989
|
| 71 | LHON
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| Genetic heterogeneity and mitochondrial DNA heteroplasmy in Leber's hereditary optic neuropathy.
|
| Holt IJ, et al.
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| J Med Genet 26 : 739-743. 1989
|
| 72 | MT-ND4, LHON
|
| Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.
|
| Wallace DC, Singh G, Lott MT, Hodge JA, Schurr TG, Lezza AM, Elsas LJ 2nd, Nikoskelainen EK.
|
| Science 242(4884):1427-30. 1988
|