期刊论文详细信息
Journal of Epileptology 卷:23
Cognitive functions in myoclonic epilepsy with ragged red fibres – a case report
Mazurkiewicz-Bełdzińska Maria1  Matheisel Agnieszka1  Domańska Martyna1  Sitek Emilia J.2  Schinwelski Michał2  Sławek Jarosław2 
[1] Department of Developmental Neurology, Medical University of Gdańsk, ul. Dębinki 7, 80-952, Gdańsk, Poland;
[2] Neurology Department, St. Adalbert Hospital, Copernicus Podmiot Leczniczy Sp. z o.o., Al. Jana Pawla II 50, 80-462 Gdańsk, Poland;
关键词: MERRF;    epilepsy;    myoclonus;    mitochondrial diseases;    cognitive impairment;   
DOI  :  10.1515/joepi-2015-0026
来源: DOAJ
【 摘 要 】

Introduction. Myoclonic epilepsy with ragged red fibers (MERRF) is a rare, progressive mitochondrial disease affecting multiple systems, including the central nervous system. Typical MERRF symptoms include: myoclonus, epileptic seizures, ataxia and cognitive decline. In mitochondrial diseases selective cognitive impairment or generalized decline, called mitochondrial dementia, is usually diagnosed.

【 授权许可】

Unknown   

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