A 29-Year-Old Female with Progressive Myoclonus and Cognitive Decline
نویسندگان
چکیده
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.
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ورودعنوان ژورنال:
دوره 2013 شماره
صفحات -
تاریخ انتشار 2013