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

UQCRC2-related mitochondrial complex III deficiency, about 7 patients.

Mitochondrion - 1 Jan 2023

Bansept Claire, Gaignard Pauline, Lebigot Elise, Eyer Didier, Delplancq Geoffroy, Hoebeke Célia, Mazodier Karin, Ledoyen Anaïs, Rouzier Cécile, Fragaki Konstantina, Ait-El-Mkadem Saadi Samira, Philippe Christophe, Bruel Ange-Line, Faivre Laurence, Feillet François, Abi Warde Marie-Thérèse

Abstract excerpt

Isolated complex III defect is a relatively rare cause of mitochondrial disorder. New genes involved were identified in the last two decades, with only a few cases described for each deficiency. UQCRC2, which encodes ubiquinol-cytochrome c reductase core protein 2, is one of the eleven structural subunits of complex III. We report seven French patients with UQCRC2 deficiency to complete the phenotype reported so...

Read the complete abstract on PubMed

Topics

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

Share to Acidosis, Lactic
Share to Electron Transport Complex III

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Phenotype

Share to Ubiquinone

Source

Identifiers

PMID: 36509339
DOI: 10.1016/j.mito.2022.12.001

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

UQCRC2-related mitochondrial complex III deficiency, about 7 patients.PMID 36509339Read ↗

UQCRC2 mutation in a patient with mitochondrial complex III deficiency causing recurrent liver failure, lactic acidosis and hypoglycemia.Semantic proximity Read ↗

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype.Semantic proximity Read ↗

[Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency].Semantic proximity Read ↗

Clinical syndromes associated with Coenzyme Q10 deficiency.Semantic proximity Read ↗

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.Semantic proximity Read ↗

Characterising a homozygous two-exon deletion in UQCRH: comparing human and mouse phenotypes.Semantic proximity Read ↗

Citrin Deficiency Mimicking Mitochondrial Depletion SyndromeSemantic proximity Read ↗

A novel homozygous SLC25A1 mutation with impaired mitochondrial complex V: Possible phenotypic expansion.Semantic proximity Read ↗

Mutations in mtDNA-encoded cytochrome c oxidase subunit genes causing isolated myopathy or severe encephalomyopathy.Semantic proximity Read ↗

Primary Coenzyme Q10 deficiency: An UpdateSemantic proximity Read ↗

A novel mutation in COQ2 leading to fatal infantile multisystem disease.Semantic proximity Read ↗

A novel mutation in the ubiquinol-cytochrome c reductase synthesis-like gene associated with complex III deficiency and Björnstad syndrome: A case report.Semantic proximity Read ↗

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