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Digitale Medien

Cortical reflex myoclonus in patients with the mitochondrial DNA transfer RNALys(8344) (MERRF) mutation (1994)

Thompson, P. D. ; Hammans, S. R. ; Harding, A. E.

Springer

Journal of neurology 241 (1994), S. 335-340

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Details

ISSN: 1432-1459

Schlagwort(e): Myoclonus ; Mitochondrial myopathy ; Mitochondrial DNA

Quelle: Springer Online Journal Archives 1860-2000

Thema: Medizin

Notizen: 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.

Materialart: Digitale Medien

URL: http://dx.doi.org/10.1007/BF00868443

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