Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review. - Wikidata - wikimedia - TriplyDB

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.

http://www.wikidata.org/entity/Q30588636

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Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Cardiac deficiency of single cytochrome oxidase assembly factor scox induces p53-dependent apoptosis in a Drosophila cardiomyopathy model

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P2860

Mitochondrial cardioencephalomyopathy due to a novel SCO2 mutation in a Brazilian patient: case report and literature review.

http://www.wikidata.org/entity/Q30588636

description

2013 nî lūn-bûn

@nan

2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած

@hyw

2013 թվականի փետրվարին հրատարակված գիտական հոդված

@hy

2013年の論文

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2013年論文

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2013年論文

@zh-hant

2013年論文

@zh-hk

2013年論文

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2013年論文

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2013年论文

@wuu

name

Mitochondrial cardioencephalom ...... report and literature review.

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Mitochondrial cardioencephalom ...... report and literature review.

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type

label

Mitochondrial cardioencephalom ...... report and literature review.

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Mitochondrial cardioencephalom ...... report and literature review.

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Mitochondrial cardioencephalom ...... report and literature review.

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Mitochondrial cardioencephalom ...... report and literature review.

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JAMANEUROL.2013.595

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Mitochondrial cardioencephalom ...... report and literature review.

@en

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Geraldo Brasileiro Filho

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Juliana Gurgel-Giannetti

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Michio Hirano

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Poliana Martins

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P2860

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

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

Mutation screening in patients with isolated cytochrome c oxidase deficiency

Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease

Novel SCO2 mutation (G1521A) presenting as a spinal muscular atrophy type I phenotype

A novel homozygous SCO2 mutation, p.G193S, causing fatal infantile cardioencephalomyopathy.

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.

Human recombinant mutated forms of the mitochondrial COX assembly Sco2 protein differ from wild-type in physical state and copper binding capacity.

Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.

Clinical, biochemical and molecular analyses of six patients with isolated cytochrome c oxidase deficiency due to mutations in the SCO2 gene.

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258-261

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scholarly article

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10.1001/JAMANEUROL.2013.595

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2

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70

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Guilherme Oliveira

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2013-02-01T00:00:00Z

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