MITOMAP References for Mutation TTTTTCTTCGCAGGA-del at 9480

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Index PMID Date Reference
1 8630495 1996 Keightley, J.A., Hoffbuhr, K.C., Burton, M.D., Salas, V.M., Johnston, W.S., Penn, A.M., Buist, N.R., Kennaway, N.G. (1996) A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria Nature Genetics . 12 (4): 410-416 .
2 20854934 2011 Figueroa-Martinez, F., Vazquez-Acevedo, M., Cortes-Hernandez, P., Garcia-Trejo, J. J., Davidson, E., King, M. P., Gonzalez-Halphen, D. (2011) What limits the allotopic expression of nucleus-encoded mitochondrial genes? The case of the chimeric Cox3 and Atp6 genes Mitochondrion . 11 (1): 147-154 .
3 11506394 2001 Taivassalo, T., Shoubridge, E. A., Chen, J., Kennaway, N. G., DiMauro, S., Arnold, D. L., Haller, R. G. (2001) Aerobic conditioning in patients with mitochondrial myopathies: physiological, biochemical, and genetic effects Annals of Neurology . 50 (2): 133-141 .
4 10788526 2000 Hoffbuhr, K. C., Davidson, E., Filiano, B. A., Davidson, M., Kennaway, N. G., King, M. P. (2000) A pathogenic 15-base pair deletion in mitochondrial DNA-encoded cytochrome c oxidase subunit III results in the absence of functional cytochrome c oxidase Journal of Biological Chemistry . 275 (18): 13994-14003 .
5 11782982 2002 Taivassalo, T., Abbott, A., Wyrick, P., Haller, R. G. (2002) Venous oxygen levels during aerobic forearm exercise: An index of impaired oxidative metabolism in mitochondrial myopathy Annals of Neurology . 51 (1): 38-44 .