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Article

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

European journal of pediatrics - 1 May 2012

Brackmann Florian, Abicht Angela, Ahting Uwe, Schröder Rolf, Trollmann Regina

Abstract excerpt

Myoclonic epilepsy with ragged red fibres (MERRF) and mitochondrial encephalopathy, lactic acidosis and stroke-like episodes (MELAS) are established phenotypes of mitochondrial encephalopathies. Nearly all patients affected by MERRF harbour a mutation in the mitochondrial tRNA(Lys) gene. We report a 13-year-old patient who presented with the classical phenotype of MERRF but was found with the typical mutation of...

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Identifiers

PMID: 22270878
DOI: 10.1007/s00431-011-1662-8

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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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Classical MERRF phenotype associated with mitochondrial tRNA(Leu) (m.3243A>G) mutation.PMID 22270878Read ↗

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

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

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

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

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

When should MERRF (myoclonus epilepsy associated with ragged-red fibers) be the diagnosis?Semantic proximity Read ↗

When should MELAS (Mitochondrial myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like episodes) be the diagnosis?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 ↗

"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation.Semantic proximity Read ↗

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

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