| 1 | MTCO3, MT-CO3 |
| Childhood onset mitochondrial myopathy and lactic acidosis caused by a stop mutation in the mitochondrial cytochrome c oxidase III gene. | |
| Horvath R, Scharfe C, Hoeltzenbein M, Do BH, Schroder C, Warzok R, Vogelgesang S, Lochmuller H, Muller-Hocker J, Gerbitz KD, Oefner PJ, Jaksch M. | |
| J Med Genet 39(11):812-6. No abstract available. 2002 | |
| 2 | MTCO3, MT-CO3 |
| A novel frameshift mutation of the mtDNA COIII gene leads to impaired assembly of cytochrome c oxidase in a patient affected by Leigh-like syndrome. | |
| Tiranti V, Corona P, Greco M, Taanman JW, Carrara F, Lamantea E, Nijtmans L, Uziel G, Zeviani M. | |
| Hum Mol Genet 9(18):2733-42. 2000 | |
| 3 | MT-CO3 |
| Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA. | |
| Hanna MG, et al. | |
| Am J Hum Genet 63 : 29-36. 1998 | |
| 4 | MTCO3, MT-CO3 |
| A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. | |
| Keightley JA, et al. | |
| Nat Genet 12 : 410-416. 1996 | |