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Article

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

Neuromuscular disorders : NMD - 1 May 2003

Nishigaki Yutaka, Tadesse Saba, Bonilla Eduardo, Shungu Dikoma, Hersh Stephen, Keats Bronya J B, Berlin Charles I, Goldberg Morton F, Vockley Jerry, DiMauro Salvatore, Hirano Michio

Abstract excerpt

In a patient with clinical features of both myoclonus epilepsy ragged-red fibers (MERRF) and Kearns-Sayre syndrome (KSS), we identified a novel guanine-to-adenine mitochondrial DNA (mtDNA) mutation at nucleotide 3255 (G3255A) of the tRNA(Leu(UUR)) gene. Approximately 5% of the skeletal muscle fibers had excessive mitochondria by succinate dehydrogenase histochemistry while a smaller proportion showed cytochrome c...

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PMID: 12868503
DOI: 10.1016/s0960-8966(02)00283-3

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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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A novel mitochondrial tRNA(Leu(UUR)) mutation in a patient with features of MERRF and Kearns-Sayre syndrome.PMID 12868503Read ↗

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