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Article

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

Muscle & nerve - 1 Feb 1996

Campos Y, Martin M A, Lorenzo G, Aparicio M, Cabello A, Arenas J

Abstract excerpt

We studied a patient with a mitochondrial encephalomyopathy characterized by the presence of all the cardinal features of both myoclonic epilepsy and ragged-red fibers (MERRF) and mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) syndromes. Muscle biopsy showed ragged-red fibers (RRF). Some RRF were cytochrome c oxidase (COX)-negative while some others stained positive for COX....

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Source

Identifiers

PMID: 8559168
DOI: 10.1002/(SICI)1097-4598(199602)19:2<187::AID-MUS10>3.0.CO;2-S

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Source receipt: pubmed, retrieved 7 Sept 2026.

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Sporadic MERRF/MELAS overlap syndrome associated with the 3243 tRNA(Leu(UUR)) mutation of mitochondrial DNA.PMID 8559168Read ↗

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

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