Myoclonic Epilepsy Associated with Ragged-Red Fibers (MERRF)

肌阵挛性癫痫伴有破碎红纤维(来自ICD-11)

别称:

Merrf Syndrome

Merrf

Fukuhara Syndrome

Myoclonus Epilepsy Associated with Ragged-Red Fibres

Myoclonic Epilepsy with Ragged-Red Fibers

Myoclonic Epilepsy Associated with Ragged Red Fibers

Myoclonus with Epilepsy and with Ragged Red Fibers

Myoclonus with Epilepsy with Ragged Red Fibers

Myoencephalopathy Ragged-Red Fiber Disease

Myoclonus Epilepsy and Ragged Red Fibers

Myoclonic Epilepsy - Ragged Red Fibers

Fukuhara Disease

加入收藏

基础信息

疾病表征

基因 & 突变

靶点药物

疾病模型

文献报道

肌阵挛性癫痫伴红纤维病，也称为MERRF综合症，与线粒体肌病、脑病、乳酸酸中毒和类似中风的发作以及线粒体肌病有关。与肌阵挛性癫痫伴红纤维病有关的重要基因是MT-TL1（线粒体编码的精氨酸（UUA/G）1转运RNA），其相关通路/超级通路包括呼吸电子传递、化学耦合合成ATP和热能通过解耦联蛋白产生。相关组织包括眼睛和心脏，相关表型为共济失调和感觉神经性听力损伤。

查看原文参与反馈