A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria (Q28115983)

4 January 2017

title

A microdeletion in cytochrome c oxidase (COX) subunit III associated with COX deficiency and recurrent myoglobinuria (English)

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4 January 2017

main subject

cytochrome c oxidase III

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respiratory chain complex IV assembly

GOA release 2020-03-11

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GOA release 2020-03-11

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J. A. Keightley

1

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4 January 2017

K. C. Hoffbuhr

2

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4 January 2017

M. D. Burton

3

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4 January 2017

V. M. Salas

4

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4 January 2017

W. S. Johnston

5

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4 January 2017

A. M. Penn

6

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4 January 2017

N. R. Buist

7

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4 January 2017

N. G. Kennaway

8

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4 January 2017

language of work or name

English

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publication date

1 April 1996

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4 January 2017

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4 January 2017

volume

12

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4 January 2017

issue

4

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4 January 2017

page(s)

410–416

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Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome

4 January 2017

cites work

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

Leber's hereditary optic neuropathy. New genetic considerations

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

Defects in mitochondrial protein synthesis and respiratory chain activity segregate with the tRNA(Leu(UUR)) mutation associated with mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

Structure and function of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

Biochemical and molecular analysis of cytochrome c oxidase deficiency in Leigh's syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

Loss of basic fibroblast growth factor in substantia nigra neurons in Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

MELAS syndrome with mitochondrial tRNA(Leu)(UUR) mutation: correlation of clinical state, nerve conduction, and muscle 31P magnetic resonance spectroscopy during treatment with nicotinamide and riboflavin

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

Deletion mutants are functionally dominant over wild-type mitochondrial genomes in skeletal muscle fiber segments in mitochondrial disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

Multiple defects of the mitochondrial respiratory chain in a mitochondrial encephalopathy (MERRF): a clinical, biochemical and molecular study.

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

The kinetic basis of threshold effects observed in mitochondrial diseases: a systemic approach

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0496-410

Mitochondrial encephalomyopathies

21 January 2018

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Molecular basis of mitochondrial DNA disease

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Mitochondrial encephalomyopathies: clinical and molecular analysis

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes (MELAS): current concepts

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Familial mitochondrial encephalomyopathy (MERRF): genetic, pathophysiological, and biochemical characterization of a mitochondrial DNA disease

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

MELAS mutation in mtDNA binding site for transcription termination factor causes defects in protein synthesis and in respiration but no change in levels of upstream and downstream mature transcripts

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

A mitochondrial tRNA anticodon swap associated with a muscle disease

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Cytochrome c oxidase deficiency

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Isoforms of mammalian cytochrome c oxidase: correlation with human cytochrome c oxidase deficiency

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Oblique misdirection and slowing of vertical saccades after unilateral lesions of the pontine tegmentum

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Sequence and organization of the human mitochondrial genome

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Structural features of cytochrome oxidase

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https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Extremely high levels of mutant mtDNAs co-localize with cytochrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Cytochrome c oxidase mutations in Leber hereditary optic neuropathy

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Involvement of cytochrome c oxidase subunit III in energy coupling

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Subunit III of cytochrome c oxidase is not involved in proton translocation: a site-directed mutagenesis study

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Detection of "deleted" mitochondrial genomes in cytochrome-c oxidase-deficient muscle fibers of a patient with Kearns-Sayre syndrome

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Metabolic causes of myoglobinuria

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Deficiency of skeletal muscle succinate dehydrogenase and aconitase. Pathophysiology of exercise in a novel human muscle oxidative defect

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Mitochondrial myopathy with succinate dehydrogenase and aconitase deficiency. Abnormalities of several iron-sulfur proteins

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Deficiency of the iron-sulfur clusters of mitochondrial reduced nicotinamide-adenine dinucleotide-ubiquinone oxidoreductase (complex I) in an infant with congenital lactic acidosis

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

34 Preparation and properties of complex V

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G).

1 reference

https://api.crossref.org/works/10.1038%2FNG0496-410

7 January 2021

Identifiers

DOI

10.1038/NG0496-410

0 references

1 reference