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

Large deletion (7.2 kb) of mitochondrial DNA with novel boundaries in a case of progressive external ophthalmoplegia.

Journal of neurology, neurosurgery, and psychiatry - 1 Oct 1996

Hirt L, Magistretti P J, Hirt L, Bogousslavsky J, Boulat O, Borruat F X

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 Age of Onset
Share to Base Sequence
Share to DNA, Mitochondrial
Share to Gene Amplification

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

Share to Molecular Sequence Data

Share to Ophthalmoplegia, Chronic Progressive External

Share to Phenotype

Share to Point Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 8890791
DOI: 10.1136/jnnp.61.4.422
PMCID: PMC486594

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

Large deletion (7.2 kb) of mitochondrial DNA with novel boundaries in a case of progressive external ophthalmoplegia.PMID 8890791Read ↗

Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings.Semantic proximity Read ↗

The common deletion found in patient reexamined after 33 years and comparison with complete mtDNA sequences of maternal relatives.Semantic proximity Read ↗

A large-scale mitochondrial DNA deletion causing progressive ataxia.Semantic proximity Read ↗

Progressive external ophthalmoplegia characterized by multiple deletions of mitochondrial DNA: unraveling the pathogenesis of human mitochondrial DNA instability and the initiation of a genetic classification.Semantic proximity Read ↗

Genotype and phenotype analyses in 136 patients with single large-scale mitochondrial DNA deletions.Semantic proximity Read ↗

Aberrant synthesis of ATP synthase resulting from a novel deletion in mitochondrial DNA in an African patient with progressive external ophthalmoplegia.Semantic proximity Read ↗

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease.Semantic proximity Read ↗

Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegia.Semantic proximity Read ↗

Sequence homology at the breakpoint and clinical phenotype of mitochondrial DNA deletion syndromes.Semantic proximity Read ↗

A novel D104G mutation in the adenine nucleotide translocator 1 gene in autosomal dominant progressive external ophthalmoplegia patients with mitochondrial DNA with multiple deletions.Semantic proximity Read ↗

Redefining phenotypes associated with mitochondrial DNA single deletion.Semantic proximity Read ↗

Progressive external ophthalmoplegia and multiple mitochondrial DNA deletions.Semantic proximity Read ↗

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