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Article

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

Neuromuscular disorders : NMD - 1 Jun 1998

Moslemi A R, Tulinius M, Holme E, Oldfors A

Abstract excerpt

We investigated the distribution in skeletal muscle of mitochondrial DNA (mtDNA) with the tRNA(Lys) A8344G mutation, which is associated with myoclonus epilepsy and ragged red fibres (MERRF) syndrome. Isolated muscle fibre segments (n = 144) from six individuals of two different families carrying the mutation were studied. Two of these individuals were affected by MERRF while four had no or minor clinical...

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Identifiers

PMID: 9673990
DOI: 10.1016/s0960-8966(98)00029-7

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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Threshold expression of the tRNA(Lys) A8344G mutation in single muscle fibres.PMID 9673990Read ↗

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 ↗

The mitochondrial DNA transfer RNA(Lys)A-->G(8344) mutation and the syndrome of myoclonic epilepsy with ragged red fibres (MERRF). Relationship of clinical phenotype to proportion of mutant 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 ↗

Impaired mitochondrial translation in human myoblasts harbouring the mitochondrial DNA tRNA lysine 8344 A-->G (MERRF) mutation: relationship to proportion of mutant mitochondrial DNA.Semantic proximity Read ↗

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

Distribution and clinical expression of the tRNA(Lys) mutation in mitochondrial DNA in 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 ↗

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

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