Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

doi:10.1002/ajmg.a.37188

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

Community

Back to search

Article

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.

American journal of medical genetics. Part A - 1 Oct 2015

Charif Majida, Titah Salah Mohamed Cherif, Roubertie Agathe, Desquiret-Dumas Valérie, Gueguen Naig, Meunier Isabelle, Leid Jean, Massal Frédéric, Zanlonghi Xavier, Mercier Jacques, Raynaud de Mauverger Eric, Procaccio Vincent, Mousson de Camaret Bénédicte, Lenaers Guy, Hamel Christian P

Abstract excerpt

We report on clinical, genetic and metabolic investigations in a family with optic neuropathy, non-progressive cardiomyopathy and cognitive disability. Ophthalmic investigations (slit lamp examination, funduscopy, OCT scan of the optic nerve, ERG and VEP) disclosed mild or no decreased visual acuity, but pale optic disc, loss of temporal optic fibers and decreased VEPs. Mitochondrial DNA and exome sequencing...

Read the complete abstract on PubMed

Topics

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

Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Electron Transport Complex II

Share to Electron Transport Complex III

Share to Membrane Potential, Mitochondrial

Share to Optic Disk

Share to Optic Nerve Diseases

Share to RNA, Transfer, Phe

Share to Visual Acuity

Source

Open in PubMed

Identifiers

PMID: 26061759
DOI: 10.1002/ajmg.a.37188

Genes

MTO1
ERG

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

Optic neuropathy, cardiomyopathy, cognitive disability in patients with a homozygous mutation in the nuclear MTO1 and a mitochondrial MT-TF variant.PMID 26061759Read ↗

A Heteroplasmic MT-CO2 m.8024G > A Variant Is Associated with Mitochondrial Bioenergetic Deficiency and Optic Atrophy.Semantic proximity Read ↗

Mitochondrial optic neuropathies.Semantic proximity Read ↗

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

Mitochondrial optic neuropathies: how two genomes may kill the same cell type?Semantic proximity Read ↗

Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies.Semantic proximity Read ↗

Mitochondrial Membrane Dynamics and Inherited Optic Neuropathies.Semantic proximity Read ↗

The homozygous R504C mutation in MTO1 gene is responsible for ONCE syndrome.Semantic proximity Read ↗

Hereditary optic neuropathies share a common mitochondrial coupling defect.Semantic proximity Read ↗

MTO1 mutations are associated with hypertrophic cardiomyopathy and lactic acidosis and cause respiratory chain deficiency in humans and yeast.Semantic proximity Read ↗

Mitochondrial disorders of the retinal ganglion cells and the optic nerve.Semantic proximity Read ↗

mtDNA mutations that cause optic neuropathy: how do we know?Semantic proximity Read ↗

Syndromic parkinsonism and dementia associated with OPA1 missense mutations.Semantic proximity Read ↗

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