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

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).

Biochimica et biophysica acta. Molecular basis of disease - 1 Jan 2024

Courtois Sarah, Angelini Chloé, M Durand Christelle, Dias Amoedo Nivea, Courreges Armelle, Dumon Elodie, Le Quang Mégane, Goizet Cyril, Martin-Negrier Marie-Laure, Rossignol Rodrigue, Lacombe Didier, Coupry Isabelle, Trimouille Aurélien

Abstract excerpt

Mitochondrial diseases are genetic disorders impairing mitochondrial functions. Here we describe a patient with a neurodegenerative condition associated with myopia, bilateral sensorineural hearing loss and motor disorders. Brain MRIs showed major cortico-subcortical and infra-tentorial atrophies, as well as intracerebral iron accumulation and central calcifications, compatible with a NBIA-like phenotype....

Read the complete abstract on PubMed

Topics

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

Share to Carbon Dioxide
Share to Iron

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mitochondrial Diseases

Share to Mutation

Share to Neurodegenerative Diseases

Source

Identifiers

PMID: 37640115
DOI: 10.1016/j.bbadis.2023.166856

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).PMID 37640115Read ↗

Case report: a novel frameshift mutation in the mitochondrial cytochrome c oxidase II gene causing mitochondrial disorder.Semantic proximity Read ↗

"Progressive myoclonic ataxia and developmental/epileptic encephalopathy associated with a novel homozygous mutation in TCN2 gene".Semantic proximity Read ↗

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

MELAS-like encephalomyopathy caused by a new pathogenic mutation in the mitochondrial DNA encoded cytochrome c oxidase subunit I.Semantic proximity Read ↗

A Rare CTBP1-Related Neurodevelopmental Disorder Is Associated with Impaired Mitochondrial Bioenergetics: A Functional Case Report.Semantic proximity Read ↗

Mitochondrial encephalomyopathy with cytochrome c oxidase deficiency caused by a novel mutation in the MTCO1 gene.Semantic proximity Read ↗

Mutated mitofusin 2 presents with intrafamilial variability and brain mitochondrial dysfunction.Semantic proximity Read ↗

Recessive pathogenic variants in <i>MCAT</i> cause combined oxidative phosphorylation deficiencySemantic proximity Read ↗

A novel MT-CO1 m.6498C>A variation associated with the m.7444G>A mutation in the mitochondrial COI/tRNA(Ser(UCN)) genes in a patient with hearing impairment, diabetes and congenital visual loss.Semantic proximity Read ↗

Cortical myoclonus and epilepsy in a family with a new SLC20A2 mutation.Semantic proximity Read ↗

First report of a de novo mutation at SLC20A2 in a patient with brain calcification.Semantic proximity Read ↗

SCP2 mutations and neurodegeneration with brain iron accumulation.Semantic proximity Read ↗

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