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Case Rep Neurol Med. 2013;2013:125672. doi: 10.1155/2013/125672. Epub 2013 Apr 11.

A 29-year-old female with progressive myoclonus and cognitive decline.

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  • 1Department of Medicine, Bath Royal United Hospital, Bath BA1 3NG, UK.

Abstract

Myoclonic epilepsy with red ragged fibres (MERRF) is a rare mitochondrial disorder presenting with progressive myoclonus, epilepsy, and cognitive decline. Here, the authors present a case of a 29-year-old lady presenting with myoclonus and describe the subsequent investigations that led to a diagnosis of MERRF. In addition, we examine her cognitive decline over a 9-year period, demonstrating a feature commonly seen in mitochondrial cytopathies.

PMID:
23662223
[PubMed]
PMCID:
PMC3639671
Free PMC Article
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