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

Phenotypic expression of mtDNA heteroplasmy in the skeletal muscle of patients with oculomyopathy: defect in mitochondrial protein synthesis.

Journal of the neurological sciences - 1 Jul 1993

Sudoyo H, Marzuki S, Byrne E, Mastaglia F

Abstract excerpt

The biochemical consequences of mtDNA heteroplasmy, observed in patients with a range of diseases associated with the mitochondrial respiratory enzymes deficiency is of particular interest, as they might provide information with regard to the regulatory interactions which govern the expression of the human mitochondrial genome. Three patients with chronic progressive external ophthalmoplegia (CPEO) were...

Read the complete abstract on PubMed

Topics

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

Share to DNA, Mitochondrial
Share to Electron Transport Complex IV

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

Share to Muscle Proteins

Share to Muscles

Share to Phenotype

Share to Protein Biosynthesis

Share to Proton-Translocating ATPases

Share to Sequence Deletion

Source

Identifiers

PMID: 8410073
DOI: 10.1016/0022-510x(93)90159-v

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.

Research trail→

Click a neighbor to travelStep 1 · 8 closest

Phenotypic expression of mtDNA heteroplasmy in the skeletal muscle of patients with oculomyopathy: defect in mitochondrial protein synthesis.PMID 8410073Read ↗

Concerted action of two novel tRNA mtDNA point mutations in chronic progressive external ophthalmoplegia.Semantic proximity Read ↗

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

Residual muscle cytochrome c oxidase activity accounts for submaximal exercise lactate threshold in chronic progressive external ophthalmoplegia.Semantic proximity Read ↗

Nuclear genetic control of mitochondrial translation in skeletal muscle revealed in patients with mitochondrial myopathy.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 ↗

Disclosing the functional changes of two genetic alterations in a patient with Chronic Progressive External Ophthalmoplegia: Report of the novel mtDNA m.7486G>A variant.Semantic proximity Read ↗

Mitochondrial DNA diseases: histological and cellular studies.Semantic proximity Read ↗

MtDNA-maintenance defects: syndromes and genes.Semantic proximity Read ↗

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