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Article

[Mitochondrial encephalomyopathies: 3243 mutation as a central matter].

Rinsho shinkeigaku = Clinical neurology - 1 Dec 1995

Goto Y, Nonaka I

Abstract excerpt

Molecular diagnosis for mitochondrial diseases offers a powerful means to clarify that mitochondrial DNA (mtDNA) defects have different characteristics from those of nuclear DNA. Regarding the relationship between genotype and phenotype, there is a dual heterogeneity. It means that one mutation, for example, a 3243 mutation, has several clinical phenotypes, including MELAS (mitochondrial myopathy, encephalopathy,...

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PMID: 8752418

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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