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线粒体脑肌病 被引量:3

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摘要 患者 男性,31岁。间断性抽搐10余年,因头部外伤入院治疗.经脑组织、肌肉活检以及基因检测明确诊断为线粒体腩肌病伴高乳酸血症和卒中样发作(mitochondrial encephalomyopathy with lactic acidosis and stroke—like episodes,MELAS).
作者 韩静 靳松
出处 《中国现代神经疾病杂志》 CAS 2007年第6期555-555,共1页 Chinese Journal of Contemporary Neurology and Neurosurgery
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同被引文献28

  • 1郭炳伦,程敬亮,李桂英,杨运俊,高鹏,王超凡,黄文启.儿童线粒体脑肌病的脑部MRI表现与诊断[J].中华放射学杂志,2004,38(6):574-577. 被引量:5
  • 2邢海芳,戴建平,高培毅,李少武,任海涛,朱明旺,王清河.成人线粒体脑肌病的临床与影像学表现特征分析[J].中华放射学杂志,2005,39(6):630-633. 被引量:24
  • 3Jameson E,Morris A.Mitochondrial disease:a review.Paediatr Child Health,2011,21:80-83.
  • 4Ito H,Mori K,Kagami S.Neuroimaging of stroke-like episodes in MELAS.Brain Dev,2011,33:283-288.
  • 5Marotta R,Reardon K.McKelvie PA,et al.Association of the MELAS m.3243A》G mutation with myositis and the superiority of urine over muscle,blood and hair for mutation detection.J Clin Neurosci,2009,16:1223-1225.
  • 6Kerr DS.Treatment of mitochondrial electron transport chain disorders:a review of clinical trials over the past decade.Mol Genet Metab,2010,99:246-255.
  • 7Coman D,Yaplito-Lee J,Boneh A.New indications and controversies in arginine therapy.Clin Nutr,2008,27:489-496.
  • 8DiMauro S, Schon EA. Mitochondrial disorders in the nervoussystem. Annu Rev Neurosci, 2008, 31:91-123.
  • 9Scheffer RC, Smout AJ. Tachyduodenia in mitochondrialneurogaatrointestinal encephalomyopathy. NeurogastroenterolMotil, 2011,23:408-410.
  • 10Honzlk T, Tesarovd M, Mayr JA, Hanslkov6 H, Jesina P,Bodamer 0, Koch J, Magner M, Freisinger P, Huemer M,Kostkovd 0,van Coster R, Kmoch S, Houst6k J, Sperl W,Zeman J. Mitochondria] encephalocardio - myopathy with earlyneonatal onset due to TMEM70 mutation. Arch Dis Child,2010,95:296-301.

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