期刊文献+

MELAS型线粒体脑肌病被误诊1例报告

下载PDF
导出
摘要 线粒体脑肌病(mitochondrialencephalomyopathy,ME)属于代谢性肌病,是一种由线粒体DNA或核DNA缺陷导致线粒体结构和功能障碍、使得肌纤维和脑神经细胞的A1中生成不足累及中枢神经系统和肌肉的病变。
出处 《癫痫与神经电生理学杂志》 2017年第5期315-316,共2页 Journal of Epileptology and Electroneurophysiology(China)
  • 相关文献

参考文献2

二级参考文献24

  • 1Kunz WS, Kudin AP, Vielhaber S, et al. Mitochondrial com- plex I deficiency in the epileptic focus of patients with temporal lobe epilepsy[J]. AnnNeurol, 2000,48 : 766-773. 被引量:1
  • 2Chuang YC, Chang AY, Lin JW, et al. Mitochondrial dysfunc- tion and ultrastructural damage in the hippocampus during kainic acid-induced status epiIepticus in the rat[J]. Epilepsia, 2004,45:1202 1209. 被引量:1
  • 3Kang HC,Lee YM,Kim HD. Mitochondrial disease and epilep- sy[J]. Brain & Dev,2013,35:757-761. 被引量:1
  • 4Khurana DS, Salganicoff L, Melvin JJ, et al. Epilepsy andrespira tory chain defects in children with mitochondrial encephalopathies [J]. Neuropediatrics,2008,39: 8-13. 被引量:1
  • 5Chevallier JA, Von Allmen GK, Koenig MK. Seizure semiolo gy and EEG findings in mitoehondrial diseases[J]. Epilepsia, 2014,55(5) :707-712. 被引量:1
  • 6Rahman S. Mitochondrial disease and epilepsy[J]. Dev Med Child Neurol,2012 ,54:397-406. 被引量:1
  • 7Cairo SE,Tucker EJ,Compton AG, et al. High throughput, pooled sequencing identifies motation m NUBPL and FOXREDI in human comple,I Deficiency[J].Nat Genet,2010, 42 : 851-858. 被引量:1
  • 8Davis RL,Liang C Edema.Hildebvanl F,t a]. Fibroblty.l grtwth factor 21 is a eusiive biomark,'r of mitochondri diseas. Neu rology, 2013,81 : 1819-1826. 被引量:1
  • 9Kang HC,Lee YM,Kirn HD,et al. Safe and effeclive use of the ketogenic diet in children with epilepsy and mitochondrial rc spiratory chain complex defeetsI-J]. Epilepsia, 2007, 48 : 82-88. 被引量:1
  • 10Ercegovac M, Jovic N, Simic T, et al. Byproducts of protein, lipid and DNA oxidative damage and antioxidant enzyme ac tivities in seizure[J]. Seizure, 2 010,19 : 2 0 5 210. 被引量:1

共引文献6

相关作者

内容加载中请稍等...

相关机构

内容加载中请稍等...

相关主题

内容加载中请稍等...

浏览历史

内容加载中请稍等...
;
使用帮助 返回顶部