Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations.

doi:10.1055/s-2008-1071341

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

Back to search

Article

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations.

Neuropediatrics - 1 Aug 1992

Nelson I, Bonne G, Degoul F, Marsac C, Ponsot G, Lestienne P

Abstract excerpt

The progressive syndrome of Kearns-Sayre has been studied at the clinical, biochemical and genetic levels in a patient. Clinical arguments suggest an evolution from Pearson's disease to Kearns-Sayre syndrome. The respiratory chain activities were low, and Southern blot analysis, together with gene sequencing, showed a heteroplasmic deletion of 7767 base pairs in a significant proportion of the mitochondrial DNA...

Topics

Anemia, Sideroblastic
Blotting, Southern
Child
Chromosome Deletion
DNA, Mitochondrial
Electron Transport
Genotype
Humans
Kearns-Sayre Syndrome
Male
Neurologic Examination

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Phenotype

Polymerase Chain Reaction

Protein Biosynthesis

Recombination, Genetic

Sequence Analysis, DNA

Transcription, Genetic

Source

Open in PubMed

Identifiers

PMID: 1407387
DOI: 10.1055/s-2008-1071341

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1407387-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

Community interpretation

Discuss the evidence

Ask a question, add context or challenge an interpretation. Community activity is separate from scientific evidence strength.

discussions

replies

Citations encouraged

Claims remain attributable.

No discussion yet

Be the first to add a careful, cited interpretation.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Kearns-Sayre syndrome with sideroblastic anemia: molecular investigations.PMID 1407387Read ↗

Deletion in blood mitochondrial DNA in Kearns-Sayre syndrome.Semantic proximity Read ↗

Mitochondrial DNA deletion with Kearns Sayre syndrome in a child with Addison diseaseSemantic proximity Read ↗

Mitochondrial DNA, diabetes and pancreatic pathology in Kearns-Sayre syndromeSemantic proximity Read ↗

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.Semantic proximity Read ↗

[Retinitis pigmentosa in Kearns-Sayre syndrome resulting from mutation of mitochondrial DNA "de novo"].Semantic proximity Read ↗

Mitochondrial and nuclear DNA complementation in the respiratory chain function and defects.Semantic proximity Read ↗

"Bartter-like" phenotype in Kearns-Sayre syndrome.Semantic proximity Read ↗

[Pearson syndrome. Case report].Semantic proximity Read ↗

A case of Kearns-Sayre syndrome showing a constant proportion of deleted mitochondrial DNA in blood cells during 6 years of follow-up.Semantic proximity Read ↗

Mitochondrial DNA deletion and duplication in Kearns-Sayre Syndrome (KSS) with initial presentation as Pearson Marrow-Pancreas Syndrome (PMPS): Two case reports in Barranquilla, Colombia.Semantic proximity Read ↗

Combined cyclic vomiting and Kearns-Sayre syndromes.Semantic proximity Read ↗

Spectrum of mitochondrial DNA rearrangements in the Pearson marrow-pancreas syndrome.Semantic proximity Read ↗

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