A new mitochondrial disease associated with mitochondrial DNA heteroplasmy.

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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...

Topics

Adult
Aged
Aged, 80 and over
Amino Acids
Animals
Base Sequence
Child, Preschool
DNA, Mitochondrial
Deoxyribonucleases, Type II Site-Specific
Female
Humans
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Middle Aged

Mitochondria, Muscle

Molecular Sequence Data

Muscular Diseases

Mutation

Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 2137962
PMCID: PMC1683641

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-2137962-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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