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Article

[Mitochondrial encephalomyopathies: pleomorphism of the mitochondrial DNA mutations and clinical features].

Nihon rinsho. Japanese journal of clinical medicine - 1 Sept 1993

Sato T, Hirawake H

Abstract excerpt

Recent studies analyzing mtDNA have established to elucidate the molecular pathology of mitochondrial encephalomyopathies. The human mitochondrial genome is 16,569 bp circular double-stranded molecule that is maternally inherited. Since the first report on large deletions of mtDNA in patients with progressive external ophthalmoplegia (PEO) by Holt et al in 1988, various mtDNA mutations were found. On the basis of...

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PMID: 8411714

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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