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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 pedigree harbouring the heteroplasmic A to G transition at nucleotide 3243 of the mitochondrial tRNALeu(UUR), which is...

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Identifiers

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

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

Source receipt: pubmed, retrieved 7 Sept 2026.

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Research trail→

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

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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 ↗

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

A mutation in the tRNA(Leu)(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.Semantic proximity Read ↗

MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).Semantic proximity Read ↗

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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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