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Article

Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.

Biochimica et biophysica acta - 24 May 1995

Morgan-Hughes J A, Sweeney M G, Cooper J M, Hammans S R, Brockington M, Schapira A H, Harding A E, Clark J B

Abstract excerpt

This study examines the relationship of genotype to phenotype in 14 unselected patients who were found to harbour the A3243G transition in the mitochondrial transfer RNALeu(UUR) gene commonly associated with the syndrome of mitochondrial encephalopathy, lactic acidosis and strokes (MELAS). Only 6 of the 14 cases (43%) had seizures and recurrent strokes, the core clinical features of the MELAS phenotype. Of the...

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PMID: 7599199
DOI: 10.1016/0925-4439(95)00020-5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Mitochondrial DNA (mtDNA) diseases: correlation of genotype to phenotype.PMID 7599199Read ↗

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Diagnosis and Management of Mitochondrial Encephalopathy, Lactic Acidosis, and Stroke-like Episodes Syndrome.Semantic proximity Read ↗

Heterogeneity in the phenotypic expression of the mutation in the mitochondrial tRNA(Leu) (UUR) gene generally associated with the MELAS subset of mitochondrial encephalomyopathies.Semantic proximity Read ↗

The mitochondrial DNA transfer RNALeu(UUR) A-->G(3243) mutation. A clinical and genetic study.Semantic proximity Read ↗

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