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Article

A molecular genetic study of focal histochemical defects in mitochondrial encephalomyopathies.

Brain : a journal of neurology - 1 Apr 1992

Hammans S R, Sweeney M G, Wicks D A, Morgan-Hughes J A, Harding A E

Abstract excerpt

Using in situ hybridization and histochemistry we have studied muscle biopsy samples from eight patients with mitochondrial encephalomyopathies and known defects of mitochondrial DNA (mtDNA). In four patients with heteroplasmic mtDNA deletions there were focal accumulations of deleted mtDNA and its transcripts within ragged red fibres (RRF). In one of these, a probe designed specifically to detect deleted mtDNA...

Topics

Base Sequence
Brain Diseases
Chromosome Deletion
DNA, Mitochondrial
Histocytochemistry
Humans
Mitochondria
Mitochondria, Muscle
Molecular Sequence Data
Muscular Diseases
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Nucleic Acid Hybridization

Oligonucleotide Probes

Source

Identifiers

PMID: 1606473
DOI: 10.1093/brain/115.2.343

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1606473-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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