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Article

Chronic progressive external ophthalmoplegia: a correlative study of mitochondrial DNA deletions and their phenotypic expression in muscle biopsies.

Journal of the neurological sciences - 1 Dec 1990

Goto Y, Koga Y, Horai S, Nonaka I

Abstract excerpt

Deleted mitochondrial DNA (mtDNA) has been shown to coexist with normal mtDNA (heteroplasmy) in muscles from chronic progressive external ophthalmoplegia, including Kearns-Sayre syndrome. In this study, we correlated heteroplasmic mtDNA abnormality with clinical, biochemical and histological find...

Topics

Chromosome Deletion
Cytochrome-c Oxidase Deficiency
DNA, Mitochondrial
Electron Transport Complex IV
Humans
Mitochondria, Muscle
Muscles
Ophthalmoplegia
Phenotype

Source

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 1965208
DOI: 10.1016/0022-510x(90)90014-e

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-1965208-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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