Clinical variability associated with the mutation at nucleotide position 8344 of the mitochondrial DNA

Abstract

Myoclonic epilepsy with ragged-red fibres (MERRF) (McKusick 545000) is a maternally inherited encephalomyopathy characterized by action myoclonus, myoclonic epilepsy, ataxia, and myopathy with ragged-red fibres (RRF). Less common signs include dementia, seizures, neuropathy, hearing loss, optic atrophy and spasticity (Silvestri et al 1993). An A-to-G… (More)
DOI: 10.1007/BF01799408

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