The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

doi:10.1136/jnnp.61.1.47

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Article

The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.

Journal of neurology, neurosurgery, and psychiatry - 1 Jul 1996

Fabrizi G M, Cardaioli E, Grieco G S, Cavallaro T, Malandrini A, Manneschi L, Dotti M T, Federico A, Guazzi G

Abstract excerpt

OBJECTIVE: To verify the phenotype to genotype correlations of mitochondrial DNA (mtDNA) related disorders in an atypical maternally inherited encephalomyopathy. METHODS: Neuroradiological, morphological, biochemical, and molecular genetic analyses were performed on the affected members of a pedi...

Topics

Adolescent
Adult
Autoradiography
Brain
DNA, Mitochondrial
Female
Genotype
Humans
MELAS Syndrome
MERRF Syndrome
Magnetic Resonance Imaging
Male

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Skeletal

Pedigree

Phenotype

Point Mutation

Polymerase Chain Reaction

RNA, Transfer, Leu

Source

Open in PubMed Open full text

Identifiers

PMID: 8676159
DOI: 10.1136/jnnp.61.1.47
PMCID: PMC486456

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-8676159-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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The A to G transition at nt 3243 of the mitochondrial tRNALeu(UUR) may cause an MERRF syndrome.PMID 8676159Read ↗

Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.Semantic proximity Read ↗

MERRF/MELAS overlap syndrome: a double pathogenic mutation in mitochondrial tRNA genes.Semantic proximity Read ↗

Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.Semantic proximity Read ↗

Genetic, pathogenetic, and phenotypic implications of the mitochondrial A3243G tRNALeu(UUR) mutation.Semantic proximity Read ↗

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The mitochondrial tRNA(Leu(UUR)) mutation in mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS): genetic, biochemical, and morphological correlations in skeletal muscle.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 ↗

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