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  3. Myoclonic Epilepsy and Ragged-Red Fiber Disease

Myoclonic Epilepsy and Ragged-Red Fiber Disease

Definition

Myoclonic Epilepsy and Ragged-Red Fiber Disease (MERRF) is a mitochondrial encephalomyopathy characterized by myoclonic seizures, cerebellar ataxia, myopathy, and ragged-red fibers (RRFs) on muscle biopsy. RRFs are muscle fibers with subsarcolemmal mitochondria that stained red with Gomori trichrome stain. The MERRF syndrome is most commonly caused by the A8344G mutation in the mitochondrial tRNA Lys gene.

生物医学辞典

生物医学辞典は、生物学の学術用語と専門データの包括的で専門的なデータベースです。すべての説明は、権威ある書籍や高いＩＦの文献に基づいており、知りたい生物医学用語の正確な説明を得ることができます。
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