Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1994 Mar;241(5):335-40.
doi: 10.1007/BF00868443.

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

P D Thompson  1 , S R Hammans, A E Harding
Affiliations

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

P D Thompson et al. J Neurol. 1994 Mar.

Abstract

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 nerve stimulation. Electroencephalography showed paroxysmal spike and polyspike and wave discharges, with photic sensitivity. This pattern of electrophysiological abnormalities was uniform, despite considerable variation in severity of myoclonus. Although a consistent finding, cortical reflex myoclonus is not specific to MERRF amongst myoclonic syndromes.

PubMed Disclaimer

References

    1. Am J Hum Genet. 1991 Oct;49(4):715-22 - PubMed
    1. Rev Neurol (Paris). 1982;138(3):187-200 - PubMed
    1. Eur J Hum Genet. 1993;1(1):80-7 - PubMed
    1. Brain. 1985 Mar;108 ( Pt 1):193-24 - PubMed
    1. Brain. 1989 Oct;112 ( Pt 5):1261-76 - PubMed

Publication types

MeSH terms