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Cytochrome c oxidase deficiency with acute onset and rapid recovery
Pediatric Neurology, 1990 A 7-year-old girl with cytochrome c oxidase deficiency who had no neurologic deficits in infancy suddenly developed ophthalmoplegia, ptosis, and respiratory arrest. She recovered almost completely 80 days after onset, suggesting that acute onset and rapid remission are observed in patients with cytochrome c oxidase deficiency.H, Nozaki, S, Hamano, Y, Ueoka, H, Horita, Y, Koga, I, Nonaka +5 moreopenaire +2 more sourcesCytochrome c oxidase deficiency in menkes kinky hair disease
Brain and Development, 1983 In a 4-year-old male with Menkes kinky hair disease (MKHD) treated with copper supplement therapy, reduced cytochrome a + a3 contents in liver was demonstrated to be 0.029 against 0.128 nmol/mg protein in the control. Cytochrome c oxidase activities in brain, liver, skeletal muscle, and heart were 47, 22, 54 and 59% of the control, respectively.M, Maehara, N, Ogasawara, N, Mizutani, K, Watanabe, S, Suzuki +4 moreopenaire +2 more sourcesMyopathy and Fatal Cardiopathy due to Cytochrome c Oxidase Deficiency
Archives of Neurology, 1986 A 3-day-old girl had a syndrome of lethargy and lactic acidosis. Pregnancy and delivery had been normal; there was no consanguinity or family history of neuromuscular disease. At age 4 1/2 months, she had generalized weakness, hypotonia, areflexia, and macroglossia. She developed cyanosis and respiratory failure, and marked cardiomegaly was noted.Zeviani M., Van Dyke D. H., Servidei S., Bauserman S. C., Bonilla E., Beaumont E. T., Sharda J., Vander-Laan K., Dimauro S. +8 moreopenaire +2 more sourcesAutosomal Recessive Lethal Infantile Cytochrome C Oxidase Deficiency
Archives of Pediatrics & Adolescent Medicine, 1991 Three bedouin children with mitochondrial myopathy due to cytochrome c oxidase deficiency presented with progressive muscle weakness, failure to thrive, proximal renal tubular acidosis, and lactic acidemia leading to death. Two died by age 5 months and one by age 16 months.G, Eshel, E, Lahat, K, Fried, J, Barr, V, Barash, A, Gutman, S, DiMauro, M, Aladjem +7 moreopenaire +2 more sourcesA morphometric study of muscle mitochondria in cytochrome c oxidase deficiency
Journal of the Neurological Sciences, 1988 Quantitative analysis of mitochondrial size and its percentage of total fibre volume in different muscle fibre types was performed on biceps brachii muscles of controls aged from 9 months to 10 years, and patients aged from 8 months to 14 years, with cytochrome c oxidase (CCO) deficiency confirmed by both histochemical and biochemical analyses.S, Chung, I, Nonakaopenaire +2 more sourcesCytochrome-C-Oxidase Deficiency
2009 Nils Peters, Martin Dichgans, Sankar Surendran, Josep M. Argilés, Francisco J. López-Soriano, Sílvia Busquets, Klaus Dittmann, H. Peter Rodemann, Anca Sindrilaru, Cord Sunderkötter, Hiroshi Watanabe, Dan M. Roden, Giora Feuerstein, Robert Ruffolo, Ralph Knöll, Srijita Sen-Chowdhry, Deirdre Ward, William J. McKenna, Jens Mogensen, Mangala A. Nadkarni, F. Elizabeth Martin, Nicholas A. Jacques, Neil Hunter, Markus Böhm, Thomas A. Luger, Tilman Grune, Nicola Longo, Cristina Amat Di San Filippo, Elisabeth L. Schwarz, Marzia Pasquali, Elardus Erasmus, Lodewyk J. Mienie, Marcus Deschauer, Stephan Zierz, Du Toit Loots, Lee A. Denson, Helen C. Su, Michael J. Lenardo, Heather E. McDermid, Graeme Eisenhofer, Oscar De La Calle-Martin, Natalia Casamitjana, Cristina Woellner, Bodo Grimbacher, Detlef Schuppan, Walter Lisch, Berthold Seitz, Andreas Janecke, Tommie V. McCarthy, Carina Wallgren-Pettersson, Joost Haan, Michael T. Wunderlich, Nicole Revencu, Miikka Vikkula, Akira Honda, Seema R. Lalani, John W. Belmont, Julian Ilcheff Borissoff, Hugo Ten Cate, Takatoshi Kasai, Daniel Markovich, Michael Trauner, Carlo Selmi, M. Eric Gershwin, Michael Trauner, Michael Trauner, Malcolm A. Lyons, Kirk J. Maurer, Martin C. Carey, Lee A. Denson, Frank Lammert, Tilman Sauerbruch, Lee A. Denson, Peter L. M. Jansen, Peter L. M. Jansen, Peter L. M. Jansen, Holger Sudhoff, Stephan Vom Dahl, Detlev Ameis, Muhammad Faiyaz-Ul-Haque, Syed Hassan Ejaz Zaidi, Caroline Silve, Piero Pavone, Rosario Rich Trifiletti, Friedrich Asmus, Petra Weckerle, Gesa Schwanitz, Barbara Busert, Tanya Thiagarajah, Walter Muir, Ben Pickard, Anthony J. Cleare, Hubert Scharnagl, Winfried März, Ralf Kubitz, Dieter Häussinger, Norbert Schwenzer, Alexander K. C. Leung, William Lane M. Robson, Andrew L. Wong, Yener Güzelcan, Francesco Trotta, Andrea Lo Monaco, Alexander K. C. Leung, Reginald S. Sauve, Todd D. Rozen, Gloria L. David, Darryl C. Zeldin, P. Syamasundar Rao, Anne M. Molloy, John M. Scott, Göksel Somay, Sultan Ayoub Meo, Sultan Ayoub Meo, Joshua Fierer, Mark Berneburg, Thomas Schwarz, Jürgen Schölmerich, Anne Katrin Lampe, Kate Bushby, William J. Speake, John Simpson, Hope E. Uronis, Gerard C. Blobe, Diego Franco, Amelia Aránega, Eggert Stockfleth, Ingo Nindl, Christian Hamel, Felix G. Riepe, Erich C. Strauss, Vinzenz Oji, Heiko Traupe, Thomas Frieling, Andrea Cavani, Giampiero Girolomoni, Randolf Brehler, Ortrud K. Steinlein, Janet Y. Uriu-Adams, Janet Y. Uriu-Adams, Jean-Charles Deybach, Hervé Puy, Michael L. S. Ma, Patrick T. S. Ma, Alexander K. C. Leung, Alexander A. C. Leung, Patrick T. S. Ma, Alexander K. C. Leung, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Berthold Seitz, Andreas Janecke, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch, Andreas Janecke, Berthold Seitz, Walter Lisch +199 moreopenaire +1 more source
