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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...

Topics

Acidosis, Lactic
Adult
Brain Diseases
Cerebrovascular Disorders
DNA, Mitochondrial
Humans
Medical Records
Middle Aged
Mitochondria
Mothers
Muscular Diseases

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Pedigree

Phenotype

Syndrome

Source

Identifiers

PMID: 1586140
DOI: 10.1002/ana.410310408

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-1586140-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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MELAS: clinical features, biochemistry, and molecular genetics.PMID 1586140Read ↗

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