(Q47837478)

6 February 2018

title

Mitochondrial myopathy and rhabdomyolysis associated with a novel nonsense mutation in the gene encoding cytochrome c oxidase subunit I. (English)

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6 February 2018

main subject

mitochondrial myopathy

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Gittan Kollberg

1

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6 February 2018

Ali-Reza Moslemi

2

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6 February 2018

Christopher Lindberg

3

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6 February 2018

Elisabeth Holme

4

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6 February 2018

Anders Oldfors

5

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6 February 2018

publication date

1 February 2005

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6 February 2018

Journal of Neuropathology & Experimental Neurology

published in

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6 February 2018

volume

64

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6 February 2018

issue

2

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6 February 2018

page(s)

123-128

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6 February 2018

cites work

Rhabdomyolysis: a review

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Acute peripheral neuropathy, rhabdomyolysis, and severe lactic acidosis associated with 3243 A to G mitochondrial DNA mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

A novel sporadic mutation in cytochrome c oxidase subunit II as a cause of rhabdomyolysis.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Structure and function of cytochrome c oxidase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

The whole structure of the 13-subunit oxidized cytochrome c oxidase at 2.8 A

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Cytochrome c oxidase subunit I microdeletion in a patient with motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Metabolic consequences of a novel missense mutation of the mtDNA CO I gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Primary human muscle satellite cell culture: variations of cell yield, proliferation and differentiation rates according to age and sex of donors, site of muscle biopsy, and delay before processing.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Autosomal dominant progressive external ophthalmoplegia: distribution of multiple mitochondrial DNA deletions.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Reanalysis and revision of the Cambridge reference sequence for human mitochondrial DNA

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Metabolic causes of myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Mitochondrial DNA deletions in inherited recurrent myoglobinuria

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Assembly of cytochrome-c oxidase in cultured human cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Reversal of a mitochondrial DNA defect in human skeletal muscle.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Gene shifting: a novel therapy for mitochondrial myopathy.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Skeletal myogenic progenitors originating from embryonic dorsal aorta coexpress endothelial and myogenic markers and contribute to postnatal muscle growth and regeneration

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Muscle regeneration by bone marrow-derived myogenic progenitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

Myogenic specification of side population cells in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FJNEN%2F64.2.123

21 January 2018

Identifiers

DOI

10.1093/JNEN/64.2.123

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6 February 2018

PubMed ID

15751226

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6 February 2018