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Article

Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNA(Lys)(8344) (MERRF) mutation.

Journal of neurology - 1 Mar 1994

Thompson P D, Hammans S R, Harding A E

Abstract excerpt

Five patients from three families with the syndrome of myoclonic epilepsy and ragged red fibres (MERRF), associated with the mitochondrial DNA point mutation at position 8344, were studied neurophysiologically to determine the characteristics of their myoclonus. The findings were those of cortical reflex myoclonus, with enlarged cortical somatosensory evoked potentials and late reflex responses to peripheral...

Topics

Adult
Cerebral Cortex
Child, Preschool
DNA, Mitochondrial
Electromyography
Evoked Potentials, Somatosensory
Female
Humans
Male
Middle Aged
Mitochondrial Myopathies

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Mutation

Myoclonus

RNA, Transfer, Lys

Reaction Time

Reflex

Source

Identifiers

PMID: 8006688
DOI: 10.1007/BF00868443

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 29 Aug 2026. Prepared record publication-8006688-2026-08-29.1. Manifest publication-graph-cohort-2026-08-29.1.

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

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Click a neighbor to travelStep 1 · 12 closest

Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNA(Lys)(8344) (MERRF) mutation.PMID 8006688Read ↗

Myoclonic epilepsy with ragged-red fibers (MERRF) syndrome: report of a Chinese family with mitochondrial DNA point mutation in tRNA(Lys) gene.Semantic proximity Read ↗

Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation.Semantic proximity Read ↗

Distal weakness with respiratory insufficiency caused by the m.8344A > G "MERRF" mutation.Semantic proximity Read ↗

MERRF-like phenotype associated with a rare mitochondrial trnaile mutation (m.4284 G>A).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 ↗

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

Late-onset Leigh syndrome with myoclonic epilepsy with ragged-red fibers.Semantic proximity Read ↗

Mutation in the mitochondrial tRNA(Ile) gene causes progressive myoclonus epilepsy.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 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 ↗

Epileptic phenotypes associated with mitochondrial disorders.Semantic proximity Read ↗

Parkinson syndrome, neuropathy, and myopathy caused by the mutation A8344G (MERRF) in tRNALys.Semantic proximity Read ↗

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