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Article

MELAS: clinical features, biochemistry, and molecular genetics.

Annals of neurology - 1 Apr 1992

Ciafaloni E, Ricci E, Shanske S, Moraes C T, Silvestri G, Hirano M, Simonetti S, Angelini C, Donati M A, Garcia C

Abstract excerpt

We studied 23 patients with clinically defined mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS), 25 oligosymptomatic or asymptomatic maternal relatives, and 50 mitochondrial disease control subjects for the presence of a previously reported heteroplasmic point mutation at nt 3,243 in the transfer RNA(Leu(UUR)) gene of mitochondrial DNA. We found a high concordance between...

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Identifiers

PMID: 1586140
DOI: 10.1002/ana.410310408

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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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