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。
2Nanau RM, Neuman MG. Adverse drug reactions induced by valproic acid [J]. Clin Biochem, 2013,46(15):1323-1338.
3Finsterer J,Zarrouk Mahjoub S.Epilepsy in mitochondrial disorders [J]. Seizure, 2012,21(5):316-321.
二级参考文献39
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.
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.