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Article

Progressive increase of the mutated mitochondrial DNA fraction in Kearns-Sayre syndrome.

Pediatric research - 1 Aug 1990

Larsson N G, Holme E, Kristiansson B, Oldfors A, Tulinius M

Abstract excerpt

We have performed morphologic and biochemical studies in three pediatric cases of Kearns-Sayre syndrome. All cases had heteroplasmy with a high percentage of mitochondrial DNA (mtDNA) with deletion in muscle. The deletions were mapped to the same region of mtDNA but were of different sizes. The same type of deletion could also be detected in fibroblasts from all cases but the percentage was considerably lower. In...

Topics

Adolescent
Adult
Bone Marrow
Chromosome Deletion
Chromosome Mapping
DNA, Mitochondrial
Female
Humans
Kearns-Sayre Syndrome
Male
Mitochondria, Muscle
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 2395603
DOI: 10.1203/00006450-199008000-00011

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2395603-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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