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

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.

American journal of human genetics - 1 Oct 1990

Howell N, McCullough D

Abstract excerpt

A large Australian family afflicted with Leber's Hereditary Optic Neuropathy (LHON) is analyzed at the nucleotide sequence level in this report. Biochemical assays of platelet mitochondria isolated from members of this family have demonstrated a significant decrease in the specific activity of Complex I (NADH-ubiquinol oxidoreductase) of the electron transport chain. It is shown here, however, that neither this...

Read the complete abstract on PubMed

Topics

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

Share to Base Sequence
Share to Cloning, Molecular
Share to DNA, Mitochondrial

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Genotype

Share to Molecular Sequence Data

Share to Mutation

Share to Oligonucleotide Probes

Share to Polymerase Chain Reaction

Source

Open in PubMed Open full text

Identifiers

PMID: 2121024
PMCID: PMC1683808

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

An example of Leber hereditary optic neuropathy not involving a mutation in the mitochondrial ND4 gene.PMID 2121024Read ↗

Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees.Semantic proximity Read ↗

Leber's hereditary optic neuropathy: a multifactorial disease.Semantic proximity Read ↗

The role of the ND5 gene in LHON: characterization of a new, heteroplasmic LHON mutation.Semantic proximity Read ↗

Prevalence of Mitochondrial ND4 Mutations in 1281 Han Chinese Subjects With Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia.Semantic proximity Read ↗

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

Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families.Semantic proximity Read ↗

Mitochondrial ND1 Variants in 1281 Chinese Subjects With Leber's Hereditary Optic Neuropathy.Semantic proximity Read ↗

Peculiar combinations of individually non-pathogenic missense mitochondrial DNA variants cause low penetrance Leber’s hereditary optic neuropathySemantic proximity Read ↗

Leber's hereditary optic neuropathy is associated with mitochondrial ND1 T3394C mutation.Semantic proximity Read ↗

The spectrum of mitochondrial DNA mutations in families with Leber hereditary optic neuroretinopathy.Semantic proximity Read ↗

Leber hereditary optic neuropathy due to a new ND1 mutation.Semantic proximity Read ↗

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