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Article

Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.

Journal of the Formosan Medical Association = Taiwan yi zhi - 1 Apr 1995

Huang C C, Chu N S, Shih K D, Pang C Y, Wei Y H

Abstract excerpt

The distribution and clinical expression of mutant mtDNA with an A-to-G transition at the 8,344th nucleotide position in the tRNA(Lys) gene were studied in different tissues of the probands and relatives in a Taiwanese family with myoclonic epilepsy with ragged-red fibers (MERRF) syndrome. The proportions of mutant mtDNA were 89% to 95% for muscles and 78% to 99% for blood cells in the symptomatic probands except...

Topics

Adolescent
Adult
Aged
Child
Child, Preschool
DNA, Mitochondrial
Female
Humans
MERRF Syndrome
Male
Middle Aged
Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

RNA, Transfer, Lys

Source

Identifiers

PMID: 7606176

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-7606176-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 29 Aug 2026.

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Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in MERRF syndrome.PMID 7606176Read ↗

Uniform tissue distribution of tRNA(Lys) mutation in mitochondrial DNA in MERRF patients.Semantic proximity Read ↗

Distribution and threshold expression of the tRNA(Lys) mutation in skeletal muscle of patients with myoclonic epilepsy and ragged-red fibers (MERRF).Semantic proximity Read ↗

Segregation and manifestations of the mtDNA tRNA(Lys) A-->G(8344) mutation of myoclonus epilepsy and ragged-red fibers (MERRF) 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 ↗

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

Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.Semantic 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 ↗

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

A tRNA(Lys) mutation in the mtDNA is the causal genetic lesion underlying myoclonic epilepsy and ragged-red fiber (MERRF) syndrome.Semantic proximity Read ↗

Myoclonus epilepsy associated with ragged-red fibers: a G-to-A mutation at nucleotide pair 8363 in mitochondrial tRNA(Lys) in two families.Semantic proximity Read ↗

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