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Article

"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation.

Journal of neurology - 1 Nov 2020

Ji Kunqian, Zhao Bing, Lin Yan, Wang Wei, Liu Fuchen, Li Wei, Zhao Yuying, Yan Chuanzhu

Abstract excerpt

The mitochondrial tRNALys (mt-tRNALys) mutation is initially associated with myoclonic epilepsy and ragged-red fibers (MERRF). The clinical, laboratory, morphologic and molecular findings from 22 mt-tRNALys mutation carriers from local database in East China were analyzed retrospectively. We identified 13 symptomatic and 9 asymptomatic individuals with a known pathogenic mitochondrial tRNALys mutation. The most...

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Identifiers

PMID: 32577866
DOI: 10.1007/s00415-020-10017-z

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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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"Myo-neuropathy" is commonly associated with mitochondrial tRNALysine mutation.PMID 32577866Read ↗

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The expanding mutational spectrum of MERRF substitution G8361A in the mitochondrial tRNALys gene.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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When should MERRF (myoclonus epilepsy associated with ragged-red fibers) 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 ↗

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