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Select item 82604771.

Human d‐lactate dehydrogenase deficiency by LDHD mutation in a patient with neurological manifestations and mitochondrial complex IV deficiency

Anna Ka‐Yee Kwong, Sheila Suet‐Na Wong, Richard J. T. Rodenburg, Jan Smeitink, Godfrey Chi Fung Chan, Cheuk‐Wing Fung

JIMD Rep. 2021 Jul; 60(1): 15–22. Published online 2021 May 21. doi: 10.1002/jmd2.12220

PMCID:: PMC8260477

Article PDF–1.3M

Select item 81857192.

MR Findings in Leigh Syndrome with COX Deficiency and SURF-1 Mutations

Laura Farina, Luisa Chiapparini, Graziella Uziel, Marianna Bugiani, Massimo Zeviani, Mario Savoiardo

AJNR Am J Neuroradiol. 2002 Aug; 23(7): 1095–1100.

PMCID:: PMC8185719

Article PDF–235K

Select item 81489973.

Leigh Syndrome with COX Deficiency and SURF1 Gene Mutations: MR Imaging Findings

Andrea Rossi, Roberta Biancheri, Claudio Bruno, Maja Di Rocco, Angela Calvi, Alice Pessagno, Paolo Tortori-Donati

AJNR Am J Neuroradiol. 2003 Jun; 24(6): 1188–1191.

PMCID:: PMC8148997

Article PDF–150K

Select item 73234804.

COX deficiency and leukoencephalopathy due to a novel homozygous APOPT1/COA8 mutation

Carola Hedberg-Oldfors, Niklas Darin, Christer Thomsen, Christopher Lindberg, Anders Oldfors

Neurol Genet. 2020 Aug; 6(4): e464. Published online 2020 Jun 16. doi: 10.1212/NXG.0000000000000464

PMCID:: PMC7323480

Article PDF–662K

Select item 66631955.

Mitochondrial respiratory chain complex IV deficiency presenting as neonatal respiratory distress syndrome

Shrinal Kotecha, Venkatesh Kairamkonda

BMJ Case Rep. 2019; 12(7): e229668. Published online 2019 Jul 15. doi: 10.1136/bcr-2019-229668

PMCID:: PMC6663195

Article PDF–149K

Select item 66170796.

A Novel Pathogenic Variant in MT-CO2 Causes an Isolated Mitochondrial Complex IV Deficiency and Late-Onset Cerebellar Ataxia

Charlotte M. Zierz, Karen Baty, Emma L. Blakely, Sila Hopton, Gavin Falkous, Andrew M. Schaefer, Marios Hadjivassiliou, Ptolemaios G. Sarrigiannis, Yi Shiau Ng, Robert W. Taylor

J Clin Med. 2019 Jun; 8(6): 789. Published online 2019 Jun 4. doi: 10.3390/jcm8060789

PMCID:: PMC6617079

Article PDF–2.0M

Select item 63368797.

Mitochondrial complex IV deficiency caused by a novel frameshift variant in MT-CO2 associated with myopathy and perturbed acylcarnitine profile

Sara Roos, Kalliopi Sofou, Carola Hedberg-Oldfors, Gittan Kollberg, Ulrika Lindgren, Christer Thomsen, Mar Tulinius, Anders Oldfors

Eur J Hum Genet. 2019 Feb; 27(2): 331–335. Published online 2018 Oct 12. doi: 10.1038/s41431-018-0286-0

PMCID:: PMC6336879

Article PDF–2.4M

Select item 54293538.

Mutated PET117 causes complex IV deficiency and is associated with neurodevelopmental regression and medulla oblongata lesions

G. H. Renkema, G. Visser, F. Baertling, L. T. Wintjes, V. M. Wolters, J. van Montfrans, G. A. P. de Kort, P. G. J. Nikkels, P. M. van Hasselt, S. N. van der Crabben, R. J. T. Rodenburg

Hum Genet. 2017; 136(6): 759–769. Published online 2017 Apr 6. doi: 10.1007/s00439-017-1794-7

PMCID:: PMC5429353

Article PDF–3.1M

Select item 43053389.

A truncating PET100 variant causing fatal infantile lactic acidosis and isolated cytochrome c oxidase deficiency

Monika Oláhová, Tobias B Haack, Charlotte L Alston, Jessica AC Houghton, Langping He, Andrew AM Morris, Garry K Brown, Robert McFarland, Zofia MA Chrzanowska-Lightowlers, Robert N Lightowlers, Holger Prokisch, Robert W Taylor

Eur J Hum Genet. 2015 Jul; 23(7): 935–939. Published online 2014 Oct 8. doi: 10.1038/ejhg.2014.214

PMCID:: PMC4305338

Article PDF–561K

Select item 429791310.

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy

Ulla Najwa Abdulhag, Devorah Soiferman, Ora Schueler-Furman, Chaya Miller, Avraham Shaag, Orly Elpeleg, Simon Edvardson, Ann Saada

Eur J Hum Genet. 2015 Feb; 23(2): 159–164. Published online 2014 Apr 30. doi: 10.1038/ejhg.2014.85

PMCID:: PMC4297913

Article PDF–914K

Select item 392865411.

A Founder Mutation in PET100 Causes Isolated Complex IV Deficiency in Lebanese Individuals with Leigh Syndrome

Sze Chern Lim, Katherine R. Smith, David A. Stroud, Alison G. Compton, Elena J. Tucker, Ayan Dasvarma, Luke C. Gandolfo, Justine E. Marum, Matthew McKenzie, Heidi L. Peters, David Mowat, Peter G. Procopis, Bridget Wilcken, John Christodoulou, Garry K. Brown, Michael T. Ryan, Melanie Bahlo, David R. Thorburn

Am J Hum Genet. 2014 Feb 6; 94(2): 209–222. doi: 10.1016/j.ajhg.2013.12.015

PMCID:: PMC3928654

Article PDF–1.9M

Select item 302797012.

Isolated cytochrome c oxidase deficiency as a cause of MELAS

Walter Rossmanith, Michael Freilinger, Julia Roka, Thomas Raffelsberger, Karin Moser-Their, Daniela Prayer, Günther Bernert, Reginald Bittner

BMJ Case Rep. 2009; 2009: bcr08.2008.0666. Published online 2009 Jan 23. doi: 10.1136/bcr.08.2008.0666

PMCID:: PMC3027970

Article

Select item 243101213.

Isolated Cytochrome c Oxidase Deficiency in G93A SOD1 Mice Overexpressing CCS Protein

Marjatta Son, Scot C. Leary, Nadine Romain, Fabien Pierrel, Dennis R. Winge, Ronald G. Haller, Jeffrey L. Elliott

J Biol Chem. 2008 May 2; 283(18): 12267–12275. doi: 10.1074/jbc.M708523200

PMCID:: PMC2431012

Article PDF–458K

Select item 168234814.

A biochemically distinct form of cytochrome oxidase (COX) deficiency in the Saguenay-Lac-Saint-Jean region of Quebec.

F Merante, R Petrova-Benedict, N MacKay, G Mitchell, M Lambert, C Morin, M De Braekeleer, R Laframboise, R Gagné, B H Robinson

Am J Hum Genet. 1993 Aug; 53(2): 481–487.

PMCID:: PMC1682348

Summary Page Browse PDF–1.2M

Select item 105148015.

A systematic mutation screen of 10 nuclear and 25 mitochondrial candidate genes in 21 patients with cytochrome c oxidase (COX) deficiency shows tRNA(Ser)(UCN) mutations in a subgroup with syndromal encephalopathy.

M Jaksch, S Hofmann, S Kleinle, S Liechti-Gallati, D E Pongratz, J Müller-Höcker, K B Jedele, T Meitinger, K D Gerbitz

J Med Genet. 1998 Nov; 35(11): 895–900. doi: 10.1136/jmg.35.11.895

PMCID:: PMC1051480

Summary Page Browse PDF–1.1M

Select item 1101175916.

More than Just Bread and Wine: Using Yeast to Understand Inherited Cytochrome Oxidase Deficiencies in Humans

Chenelle A. Caron-Godon, Emma Collington, Jessica L. Wolf, Genna Coletta, D. Moira Glerum

Int J Mol Sci. 2024 Apr; 25(7): 3814. Published online 2024 Mar 29. doi: 10.3390/ijms25073814

PMCID:: PMC11011759

Article PDF–991K

Select item 1024421917.

N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1^−/− zebrafish deletion models of Leigh syndrome

Suraiya Haroon, Heeyong Yoon, Christoph Seiler, Bruce Osei-Frimpong, Jie He, Rohini M Nair, Neal D Mathew, Leonard Burg, Melis Kose, Chavali R M Venkata, Vernon E Anderson, Eiko Nakamaru-Ogiso, Marni J Falk

Hum Mol Genet. 2023 Jun 15; 32(12): 1988–2004. Published online 2023 Feb 16. doi: 10.1093/hmg/ddad031