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

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

American journal of human genetics - 1 Mar 1990

Holt I J, Harding A E, Petty R K, Morgan-Hughes J A

Abstract excerpt

A variable combination of developmental delay, retinitis pigmentosa, dementia, seizures, ataxia, proximal neurogenic muscle weakness, and sensory neuropathy occurred in four members of a family and was maternally transmitted. There was no histochemical evidence of mitochondrial myopathy. Blood and muscle from the patients contained two populations of mitochondrial DNA, one of which had a previously unreported...

Read the complete abstract on PubMed

Topics

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

Share to Aged
Share to Aged, 80 and over
Share to Base Sequence

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

Share to Child, Preschool

Share to DNA, Mitochondrial

Share to Molecular Sequence Data

Share to Mutation

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 2137962
PMCID: PMC1683641

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

A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.PMID 2137962Read ↗

Defective mitochondrial ATPase due to rare mtDNA m.8969G>A mutation-causing lactic acidosis, intellectual disability, and poor growth.Semantic proximity Read ↗

Prenatal diagnosis of mitochondrial DNA8993 T----G disease.Semantic proximity Read ↗

Retinitis pigmentosa, ataxia, and mental retardation associated with mitochondrial DNA mutation in an Italian family.Semantic proximity Read ↗

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families.Semantic proximity Read ↗

Maternally inherited Leigh syndrome: T8993G mutation in a Tunisian family.Semantic proximity Read ↗

The 8993 mtDNA mutation: heteroplasmy and clinical presentation in three families.Semantic proximity Read ↗

Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.Semantic proximity Read ↗

Sequence analysis of mitochondrial DNA in a new maternally inherited encephalomyopathy.Semantic proximity Read ↗

Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.Semantic proximity Read ↗

Phenotypic variability in a family with a mitochondrial DNA T8993C mutation.Semantic proximity Read ↗

Leigh syndrome associated with the T9176C mutation in the ATPase 6 gene of mitochondrial DNA.Semantic proximity Read ↗

Mitochondrial DNA 8993 (NARP) mutation presenting with a heterogeneous phenotype including 'cerebral palsy'.Semantic proximity Read ↗

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