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Article

[Mitochondrial DNA mutations and three major forms of mitochondrial myopathies: CPEO, MELAS and MERRF].

Nihon rinsho. Japanese journal of clinical medicine - 1 Dec 1997

Goto Y

Abstract excerpt

Mitochondrial DNA (mtDNA) mutations were discovered during a few years around 1990 and thought to be assigned to the three major clinical forms of mitochondrial myopathies. Then, several mtDNA mutations were detected in each disease and the common mutations were found in more than one disease, suggesting genotype and phenotype heterogeneity. Heteroplasmy, tissue/cellular specificity and threshold effect have been...

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

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PMID: 9436447

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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.

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