Cytochrome-c Oxidase Deficiency

Known as: Complex IV Deficiencies, Deficiencies, Cytochrome-c Oxidase, Cytochrome C Oxidase Deficiency 
A disease that results from a congenital defect in ELECTRON TRANSPORT COMPLEX IV. Defects in ELECTRON TRANSPORT COMPLEX IV can be caused by mutations… (More)
National Institutes of Health

Related topics

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36 relations
Acidosis, LacticAminoaciduriaAtaxiaAutosomal recessive inheritance
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Leigh syndrome , French Canadian type

Papers overview

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Highly Cited
2009
Highly Cited
2009
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome
Defects in mitochondrial translation are among the most common causes of mitochondrial disease, but the mechanisms that regulate… (More)
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2009
2009
Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy
Childhood-onset mitochondrial encephalomyopathies are usually severe, relentlessly progressive conditions that have a fatal… (More)
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2006
2006
Retrospective, Multicentric Study of 180 Children with Cytochrome c Oxidase Deficiency
A retrospective, multicenter study of 180 children with cytochrome c oxidase (COX) deficiency analyzed the clinical features… (More)
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Review
2001
Review
2001
Cytochrome c oxidase deficiency.
Cytochrome c oxidase (COX) is the terminal enzyme of the mitochondrial respiratory chain, catalyzing the transfer of electrons… (More)
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Highly Cited
2000
Highly Cited
2000
A mutation in the human heme A:farnesyltransferase gene (COX10 ) causes cytochrome c oxidase deficiency.
Cytochrome c oxidase (COX) defects are found in a clinically and genetically heterogeneous group of mitochondrial disorders. To… (More)
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Highly Cited
2000
Highly Cited
2000
Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency.
Mutations in SCO2, a cytochrome c oxidase (COX) assembly gene located on chromosome 22, have recently been reported in patients… (More)
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Highly Cited
1998
Highly Cited
1998
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
Leigh disease associated with cytochrome c oxidase deficiency (LD[COX-]) is one of the most common disorders of the mitochondrial… (More)
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Review
1990
Review
1990
Cytochrome c Oxidase Deficiency
ABSTRACT: Cytochrome c oxidase (COX) is a complex enzyme composed of 13 subunits, three of which are encoded by the mitochondrial… (More)
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Highly Cited
1987
Highly Cited
1987
Cytochrome c oxidase deficiency in Leigh syndrome.
We studied 6 mitochondrial enzymes in crude extracts and isolated mitochondria from 5 children with pathologically proven… (More)
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1987
1987
Benign reversible muscle cytochrome c oxidase deficiency: a second case.
A 6-week-old boy had generalized weakness, requiring assisted ventilation, and lactic acidosis. At 6 months, the lactic acidosis… (More)
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