Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.

Journal of human genetics - 1 Jul 2012

Vondrackova Alzbeta, Vesela Katerina, Hansikova Hana, Docekalova Dagmar Zajicova, Rozsypalova Eva, Zeman Jiri, Tesarova Marketa

Abstract excerpt

Cytochrome-c oxidase (COX) deficiency is one of the common childhood mitochondrial disorders. Mutations in genes for the assembly factors SURF1 and SCO2 are prevalent in children with COX deficiency in the Slavonic population. Molecular diagnosis is difficult because of the number of genes involved in COX biogenesis and assembly. The aim of this study was to screen for mutations in 15 nuclear genes that encode...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cell Nucleus
Share to Cytochrome-c Oxidase Deficiency

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Czech Republic

Share to Electron Transport Complex IV

Share to Endocrine Disruptors

Share to Genotyping Techniques

Share to Introns

Share to Sensitivity and Specificity

Source

Identifiers

PMID: 22592081
DOI: 10.1038/jhg.2012.49

Genes

COX10
SCO2
SURF1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

High-resolution melting analysis of 15 genes in 60 patients with cytochrome-c oxidase deficiency.PMID 22592081Read ↗

High-resolution melting analysis for identifying sequence variations in nuclear genes for assembly factors and structural subunits of cytochrome c oxidase.Semantic proximity Read ↗

Cytochrome c oxidase deficiency.Semantic proximity Read ↗

Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.Semantic proximity Read ↗

Mutation analysis of COX18 in 29 patients with isolated cytochrome c oxidase deficiency.Semantic proximity Read ↗

A novel homozygous variant in COX5A causes an attenuated phenotype with failure to thrive, lactic acidosis, hypoglycemia, and short stature.Semantic proximity Read ↗

COX10 mutations resulting in complex multisystem mitochondrial disease that remains stable into adulthood.Semantic proximity Read ↗

Phenotypic variability and mutation hotspot in COX15-related Leigh syndrome.Semantic proximity Read ↗

Loss of the smallest subunit of cytochrome c oxidase, COX8A, causes Leigh-like syndrome and epilepsy.Semantic proximity Read ↗

Sequence analysis of the structural nuclear encoded subunits and assembly genes of cytochrome c oxidase in a cohort of 10 isolated complex IV-deficient patients revealed five mutations.Semantic proximity Read ↗

Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.Semantic proximity Read ↗

Genetic heterogeneity and respiratory chain enzyme analysis in pediatric Indian patients with mitochondrial disorder: Report of novel variants in POLG1 gene and their functional implication using molecular dynamic simulation.Semantic proximity Read ↗

Mitochondrial complex IV deficiency, caused by mutated COX6B1, is associated with encephalomyopathy, hydrocephalus and cardiomyopathy.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.