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Article

MERRF syndrome with overwhelming lactic acidosis.

Pediatric neurology - 1 Jan 1996

Sanger T D, Jain K D

Abstract excerpt

Myoclonic epilepsy with ragged-red fiber syndrome has been associated with a mitochondrial DNA base substitution at nucleotide 8344 in the mitochondrial tRNA(Lys) gene. In several reported series, adult patients with these mutations have mild to moderate symptoms that progress slowly over many years. We describe a girl with MERRF syndrome who had an unusually rapid and severe clinical course, with onset of...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Identifiers

PMID: 8652018
DOI: 10.1016/0887-8994(95)00226-x

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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.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

MERRF syndrome with overwhelming lactic acidosis.PMID 8652018Read ↗

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

The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.Semantic proximity Read ↗

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.Semantic proximity Read ↗

A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.Semantic proximity Read ↗

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).Semantic proximity Read ↗

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.Semantic proximity Read ↗

MERRF: a model disease for understanding the principles of mitochondrial genetics.Semantic proximity Read ↗

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

Phenotypic heterogeneity of the 8344A>G mtDNA "MERRF" mutation.Semantic proximity Read ↗

Genetic biochemical and pathophysiological characterization of a familial mitochondrial encephalomyopathy (MERRF).Semantic proximity Read ↗

A double mutation (A8296G and G8363A) in the mitochondrial DNA tRNA <sup>Lys</sup> gene associated with myoclonus epilepsy with ragged-red fibersSemantic proximity Read ↗

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

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