Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study.

doi:10.1016/0022-510x(95)00111-e

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Article

Focal cytochrome c oxidase deficiency in the brain and dorsal root ganglia in a case with mitochondrial encephalomyopathy (tRNA(Ile) 4269 mutation): histochemical, immunohistochemical, and ultrastructural study.

Journal of the neurological sciences - 1 Aug 1995

Kaido M, Fujimura H, Taniike M, Yoshikawa H, Toyooka K, Yorifuji S, Inui K, Okada S, Sparaco M, Yanagihara T

Abstract excerpt

This is the first report with histochemical and immunohistochemical techniques of an autopsy case with mitochondrial encephalomyopathy caused by the mitochondrial tRNA(Ile) (nt4269) A to G mutation showing focal cytochrome c oxidase (COX) deficiency of neuronal cells. The 18-year-old male patient had cardiomyopathy, hearing disability, mental retardation, and seizures. Muscle biopsy exhibited many ragged-red...

Topics

Adolescent
Brain
Cytochrome-c Oxidase Deficiency
Electron Transport
Fatal Outcome
Ganglia, Spinal
Histocytochemistry
Humans
Immunohistochemistry
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Microscopy, Electron

Mitochondria

Mitochondrial Encephalomyopathies

Muscle Fibers, Skeletal

Mutation

Myocardium

Neurons

Psoas Muscles

Source

Open in PubMed

Identifiers

PMID: 7595643
DOI: 10.1016/0022-510x(95)00111-e

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7595643-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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