Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene (Q74518028)

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11 November 2019

title

Early-onset multisystem mitochondrial disorder caused by a nonsense mutation in the mitochondrial DNA cytochrome C oxidase II gene (English)

1 reference

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Miguel Angel Fernández-Moreno

11 November 2019

author

3

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11 November 2019

Miguel Angel Martín

7

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11 November 2019

Joaquín Arenas

12

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11 November 2019

author name string

Y Campos

1

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11 November 2019

A García-Redondo

2

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11 November 2019

M Martínez-Pardo

4

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11 November 2019

G Goda

5

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11 November 2019

J C Rubio

6

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11 November 2019

P del Hoyo

8

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11 November 2019

A Cabello

9

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11 November 2019

B Bornstein

10

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11 November 2019

R Garesse

11

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11 November 2019

publication date

1 September 2001

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11 November 2019

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11 November 2019

volume

50

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11 November 2019

issue

3

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11 November 2019

page(s)

409-413

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

11 November 2019

cites work

1 reference

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

21 January 2018

1 reference

Cytochrome c oxidase deficiency associated with the first stop-codon point mutation in human mtDNA.

21 January 2018

1 reference

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

21 January 2018

1 reference

A missense mutation of cytochrome oxidase subunit II causes defective assembly and myopathy

21 January 2018

1 reference

An mtDNA mutation in the initiation codon of the cytochrome C oxidase subunit II gene results in lower levels of the protein and a mitochondrial encephalomyopathy

21 January 2018

1 reference

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

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

21 January 2018

1 reference

Mitochondrial respiratory chain diseases and mutations in nuclear DNA: a promising start?

21 January 2018

1 reference

Cytochemistry and immunocytochemistry of mitochondria in tissue sections

21 January 2018

1 reference

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

21 January 2018

1 reference

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

1 reference

Automating the identification of DNA variations using quality-based fluorescence re-sequencing: analysis of the human mitochondrial genome

21 January 2018

1 reference

Sequence and organization of the human mitochondrial genome

21 January 2018

1 reference

Quantitation of mitochondrial DNA carrying tRNALys mutation in MERRF patients

21 January 2018

1 reference

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene

21 January 2018

1 reference

Mutations in SCO2 are associated with a distinct form of hypertrophic cardiomyopathy and cytochrome c oxidase deficiency

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1002/ANA.1141

1 reference

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11 November 2019

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