(Q30588636)

18 August 2017

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

1 reference

18 August 2017

Mariz Vainzof

5

0 references

Guilherme Oliveira

object named as

Guilherme Oliveira

2

0 references

author name string

Juliana Gurgel-Giannetti

1

1 reference

18 August 2017

Geraldo Brasileiro Filho

3

1 reference

18 August 2017

Poliana Martins

4

1 reference

18 August 2017

Michio Hirano

6

1 reference

18 August 2017

language of work or name

English

0 references

publication date

1 February 2013

1 reference

18 August 2017

1 reference

18 August 2017

70

1 reference

18 August 2017

2

1 reference

18 August 2017

258-261

1 reference

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

18 August 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

Mutation screening in patients with isolated cytochrome c oxidase deficiency

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

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

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis

20 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

A novel mutation in the SCO2 gene in a neonate with early-onset cardioencephalomyopathy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

Identification of a novel compound heterozygote SCO2 mutation in cytochrome c oxidase deficient fatal infantile cardioencephalomyopathy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

A hemizygous SCO2 mutation in an early onset rapidly progressive, fatal cardiomyopathy

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

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

26 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4967497

A homozygous mutation in the SCO2 gene causes a spinal muscular atrophy like presentation with stridor and respiratory insufficiency

26 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23407777

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23407777

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Phenotypic consequences of a novelSCO2gene mutation

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/23407777

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1001/JAMANEUROL.2013.595

1 reference

18 August 2017

1 reference

18 August 2017

PubMed publication ID

23407777

1 reference