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Journal Abstract Search
197 related items for PubMed ID: 8630495
1. A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria. Keightley JA, Hoffbuhr KC, Burton MD, Salas VM, Johnston WS, Penn AM, Buist NR, Kennaway NG. Nat Genet; 1996 Apr; 12(4):410-6. PubMed ID: 8630495 [Abstract] [Full Text] [Related]
2. Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene. Papadopoulou LC, Sue CM, Davidson MM, Tanji K, Nishino I, Sadlock JE, Krishna S, Walker W, Selby J, Glerum DM, Coster RV, Lyon G, Scalais E, Lebel R, Kaplan P, Shanske S, De Vivo DC, Bonilla E, Hirano M, DiMauro S, Schon EA. Nat Genet; 1999 Nov; 23(3):333-7. PubMed ID: 10545952 [Abstract] [Full Text] [Related]
5. Molecular evolution of cytochrome c oxidase subunit I in primates: is there coevolution between mitochondrial and nuclear genomes? Wu W, Schmidt TR, Goodman M, Grossman LI. Mol Phylogenet Evol; 2000 Nov; 17(2):294-304. PubMed ID: 11083942 [Abstract] [Full Text] [Related]
7. Different tissue distribution of a mitochondrial DNA duplication and the corresponding deletion in a patient with a mild mitochondrial encephalomyopathy: deletion in muscle, duplication in blood. Houshmand M, Gardner A, Hällström T, Müntzing K, Oldfors A, Holme E. Neuromuscul Disord; 2004 Mar; 14(3):195-201. PubMed ID: 15036329 [Abstract] [Full Text] [Related]
11. A novel heteroplasmic point mutation in the mitochondrial tRNA(Lys) gene in a sporadic case of mitochondrial encephalomyopathy: de novo mutation and no transmission to the offspring. Houshmand M, Lindberg C, Moslemi AR, Oldfors A, Holme E. Hum Mutat; 1999 Mar; 13(3):203-9. PubMed ID: 10090475 [Abstract] [Full Text] [Related]
12. Apoptosis in mitochondrial myopathies is linked to mitochondrial proliferation. Auré K, Fayet G, Leroy JP, Lacène E, Romero NB, Lombès A. Brain; 2006 May; 129(Pt 5):1249-59. PubMed ID: 16537564 [Abstract] [Full Text] [Related]