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

Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation.

The British journal of ophthalmology - 1 Oct 2005

Abu-Amero K K, Bosley T M, Bohlega S, McLean D

Abstract excerpt

No abstract is available from the source.

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to DNA, Mitochondrial
Share to Dystonic Disorders
Share to Electron Transport Complex I

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Mutation

Share to Optic Atrophy, Hereditary, Leber

Source

Open in PubMed Open full text

Identifiers

PMID: 16170145
DOI: 10.1136/bjo.2005.072819
PMCID: PMC1772879

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Complex I respiratory defect in LHON plus dystonia with no mitochondrial DNA mutation.PMID 16170145Read ↗

An inherited dystrophin deletion without muscle weakness.Semantic proximity Read ↗

Additional mitochondrial DNA mutations may explain extra-ocular involvement in LHON.Semantic proximity Read ↗

[Complex I deficiency due to NDUFS8 gene mutation].Semantic proximity Read ↗

Clinical insights and molecular study of three foetuses with DYNC2H1 gene mutation causing short rib thoracic dystrophy.Semantic proximity Read ↗

Clinical presentations and laboratory investigations in respiratory chain deficiency.Semantic proximity Read ↗

Molecular and clinical study of two myotonic dystrophy homozygotes.Semantic proximity Read ↗

Cavitating leukodystrophy in a case of mitochondrial complex III deficiency due to LYRM7 mutation.Semantic proximity Read ↗

Brief report: reverse mutation in myotonic dystrophy.Semantic proximity Read ↗

Confirmation of the mitochondrial ND1 gene mutation G3635A as a primary LHON mutation.Semantic proximity Read ↗

Mitochondrial dysfunction in Stüve-Wiedemann syndrome in a patient carrying an ND1 gene mutation.Semantic proximity Read ↗

The 13042G --> A/ND5 mutation in mtDNA is pathogenic and can be associated also with a prevalent ocular phenotype.Semantic proximity Read ↗

Broad Phenotypic Heterogeneity and Multisystem Involvement in Single mtDNA Deletion-associated Pearson Syndrome.Semantic proximity Read ↗

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