Mutation in the mitochondrial tRNAIle gene causes progressive myoclonus epilepsy

Abstract

PURPOSE The group of the rare progressive myoclonic epilepsies (PME) include a wide spectrum of mitochondrial and metabolic diseases. In juvenile and adult ages, MERRF (myoclonic epilepsy with ragged red fibres) is the most common form. The underlying genetic defect in most patients with the syndrome of MERRF is a mutation in the tRNALys gene, but mutations… (More)
DOI: 10.1016/j.seizure.2013.03.003

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