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

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure.

Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society - 1 Jun 2024

Swart Grace, Fraser Clare L, Shingde Meena, Thompson Elizabeth O, Mallawaarachchi Amali, Lawlor Mitchell, Ahmad Kate, Halmagyi Gabor M

Abstract excerpt

BACKGROUND: Leber hereditary optic neuropathy (LHON) is one of the more common mitochondrial diseases and is rarely associated with mitochondrial renal disease. We report 3 unrelated patients with a background of adult-onset renal failure who presented to us with LHON and were shown to have a heteroplasmic mitochondrial DNA mutation (m.13513G>A). METHODS: Retrospective chart review. RESULTS: All 3 patients had a...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to C3 gene

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Kidney Failure, Chronic

Share to Mutation

Share to Optic Atrophy, Hereditary, Leber

Share to Ubiquinone

Source

Identifiers

PMID: 37477990
DOI: 10.1097/WNO.0000000000001946

Genes

C3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mitochondrial DNA 13513G>A Mutation Causing Leber Hereditary Optic Neuropathy Associated With Adult-Onset Renal Failure.PMID 37477990Read ↗

Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.Semantic proximity Read ↗

LEBER HEREDITARY OPTIC NEUROPATHY: A CASE REPORT OF CONCURRENT RARE MITOCHONDRIAL MUTATIONS AND ABCA4 NUCLEAR GENE MUTATION.Semantic proximity Read ↗

Autosomal recessive Leber hereditary optic neuropathy, a new neuro-ophthalmo-genetic paradigm.Semantic proximity Read ↗

DNAJC30 biallelic mutations extend mitochondrial complex I-deficient phenotypes to include recessive Leber's hereditary optic neuropathy.Semantic proximity Read ↗

Leber hereditary optic neuropathySemantic proximity Read ↗

[Leber's hereditary optic neuropathy clinical features in patients with mitochondrial DNA m.13513G>A candidate mutation].Semantic proximity Read ↗

Leber's hereditary optic neuropathy. New genetic considerations.Semantic proximity Read ↗

Systematic review of Leber's hereditary optic neuropathy - Clinical diagnosis, genetics overview and current concepts of treatment.Semantic proximity Read ↗

Leber's hereditary optic neuropathy: Update on the novel genes and therapeutic options.Semantic proximity Read ↗

Unique presentation of LHON/MELAS overlap syndrome caused by m.13046T>C in MTND5.Semantic proximity Read ↗

Leber Hereditary Optic Neuropathy in a Family of Carriers of MT-ND5 m.13042G>T (A236S) Novel Variant.Semantic proximity Read ↗

Leber Hereditary Optic Neuropathy in Southwestern Ontario: A Growing List of Mutations.Semantic proximity Read ↗

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