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A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
oleh: D. Taylor, H. R. Haynes, A. Graham, S. Gerhand, K. M. Kurian
Format: | Article |
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Diterbitkan: | Hindawi Limited 2013-01-01 |
Deskripsi
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.