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一例线粒体脑肌病伴高乳酸血症和卒中样发作患者的护理 被引量:1

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摘要 线粒体脑肌病伴高乳酸血症和卒中样发作(Mitochondrial encephalomyopathy with lactic acidemia and stroke-like episodes,MELAS)是最常见的一类表现为综合征的线粒体疾病,是由于线粒体DNA及核DNA基因突变,导致的蛋白合成障碍引起的多器官、多组织的进行性变性疾病,具有高度的临床变异性和遗传异质性。
作者 王德英
出处 《天津护理》 2015年第2期170-171,共2页 Tianjin Journal of Nursing
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  • 1Sproule DM,Kaufmann P,Engelstad K,et al.Wolf-ParkinsonWhite syndrome in patients with MELAS.Arch Neurol,2007,64:1625-1627.
  • 2Yanagiham C,Oyama A,Tanaka M,et al.An autopsy case of mitochondrial eneephalomyopathy,lactic acidosis,and stroke-like episodes syndrome with choronic renal failure.Intern Med,2001,40:662-665.
  • 3Hirano M,Ricci E,Koenigsberger MR,et al.Melas:an original case and clinical criteria for diagnosis.Neuromuscul Disord,1992,2:125-135.
  • 4Kaufmann P,Shungu DC,Sano MC,et al.Cerebral lactic acidosis correlates with neurological impairment in MELAS.Neurology,2004,62:1297-1302.
  • 5Wang Z,Qi XK,Yao S,et al.Phenotypic patterns of MELAs/LSoverlap syndrome associated with m.13513G》A mutation,and neuropathological findings in one autopsy case.Neuropathology,2010,30:606-614.
  • 6Nakamura M,Yabe I,Sudo A,et al.MERRF/MELAS overlap syndrome:a double pathogenic mutation in mitochondrial tRNA genes.J Med Genet,2010,47:659-664.
  • 7Tsuilkawa T.Yoneda M,Shimizu Y,et al.Pathophysiologic evaluation of MELAS strokes by serially quantified MRS and CASL perfusion images.Brain Dev,2010,32:143-149.
  • 8Choi BO,Hwang JH,Cho EM,et al.Mutational analysis of whole mitoehondrial DNA in patients with MELAS and MERRF diseases.Exp Mol Med,2010,42:446-455.
  • 9Lorenzoni PJ,Scola RH,Kay CS,et al.MELAS:clinical features,muscle biopsy and molecular genetics.Arq Neuropsiquiatr,2009,67:668-676.
  • 10Ahareni S,Traves TA,Melamed E,et al.MELAs syndrome associated with both A3243G-tRNALeu mutation and multiple mitochondrial DNA deletions.J Neurol Sci,2010,296:101-103.

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