| Index | PMID | Date | Reference |
|---|---|---|---|
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| 2 | 1539598 | 1992 | Harding, A.E., Holt, I.J., Sweeney, M.G., Brockington, M., Davis, M.B. (1992) Prenatal diagnosis of mitochondrial DNA8993 T-G disease American Journal of Human Genetics . 50 (3): 629-633 . |
| 3 | 2137962 | 1990 | Holt, I.J., Harding, A.E., Petty, R.K., Morgan-Hughes, J.A. (1990) A new mitochondrial disease associated with mitochondrial DNA heteroplasmy American Journal of Human Genetics . 46 (3): 428-433 . |
| 4 | 1442494 | 1992 | Obayashi, T., Hattori, K., Sugiyama, S., Tanaka, M., Tanaka, T., Itoyama, S., Deguchi, H., Kawamura, K., Koga, Y., Toshima, H., Takeda, N., Nagano, M., Ito, T., Ozawa, T. (1992) Point mutations in mitochondrial DNA in patients with hypertrophic cardiomyopathy American Heart Journal . 124 (5): 1263-1269 . |
| 5 | 8240109 | 1993 | Ortiz, R.G., Newman, N.J., Shoffner, J.M., Kaufman, A.E., Koontz, D.A., Wallace, D.C. (1993) Variable retinal and neurologic manifestations in patients harboring the mitochondrial DNA 8993 mutation Archives of Ophthalmology . 111 (11): 1525-1530 . |
| 6 | 8042671 | 1994 | Pastores, G.M., Santorelli, F.M., Shanske, S., Gelb, B.D., Fyfe, B., Wolfe, D., Willner, J.P. (1994) Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G) American Journal of Medical Genetics . 50 (3): 265-271 . |
| 7 | 8435424 | 1993 | Puddu, P., Barboni, P., Mantovani, V., Montagna, P., Cerullo, A., Bragliani, M., Molinotti, C., Caramazza, R. (1993) Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family British Journal of Ophthalmology . 77 (2): 84-88 . |
| 8 | 8250532 | 1993 | Santorelli, F.M., Shanske, S., Macaya, A., DeVivo, D.C., DiMauro, S. (1993) The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome Annals of Neurology . 34 (6): 827-834 . |
| 9 | 1436530 | 1992 | Shoffner, J.M., Fernhoff, M.D., Krawiecki, N.S., Caplan, D.B., Holt, P.J., Koontz, D.A., Takei, Y., Newman, N.J., Ortiz, R.G., Polak, M., Ballinger, S.W., Lott, M.T., Wallace, D.C. (1992) Subacute necrotizing encephalopathy: oxidative phosphorylation defects and the ATPase 6 point mutation Neurology . 42 (11): 2168-2174 . |
| 10 | 1550128 | 1992 | Tatuch, Y., Christodoulou, J., Feigenbaum, A., Clarke, J.T.R., Wherret, J., Smith, C., Rudd, N., Petrova-Benedict, R., Robinson, B.H. (1992) Heteroplasmic mtDNA mutation (T-G) at 8993 can cause Leigh disease when the percentage of abnormal mtDNA is high American Journal of Human Genetics . 50 (4): 852-858 . |
| 11 | 8476414 | 1993 | Tatuch, Y., Robinson, B.H. (1993) The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria Biochemical and Biophysical Research Communications . 192 (-): 124-128 . |
| 12 | 8078883 | 1994 | Trounce, I., Neill, S., Wallace, D.C. (1994) Cytoplasmic transfer of the mtDNA nt 8993 TG (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio Proceedings of the National Academy of Sciences of the United States of America . 91 (18): 8334-8338 . |
| 13 | 8505474 | 1993 | Yoshinaga, H., Ogino, T., Ohtahara, S., Sakuta, R., Nonaka, I., Horai, S. (1993) A T-to-G mutation at nucleotide pair 8993 in mitochondrial DNA in a patient with Leigh's syndrome Journal of Child Neurology . 8 (-): 129-133 . |
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