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线粒体基因突变与MELAS综合征 被引量:1

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作者 唐宽晓 孙磊
出处 《辽宁实用糖尿病杂志》 2004年第1期13-15,共3页 Liaoning Journal of Practical Diabetology
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参考文献13

  • 1[1]Shapira Y,Herel S,Russell A,et al.Mitochondrialencephalopathy:a Group of neuromusculardisorders with defects in oxidative metabolism.Isr J Med Sei 1997;13:161 .
  • 2[2]Pavlakis SG,Philips PC,Dimauros,et al.Mitochondrialmyopathy.encephalopathy,lacticacidosisandstroke-likeepisodes:Adistinctiveclinicalsyndrome.Ann Neurol 1984;16:481.
  • 3[3]Goto Y,Nonaka I,Horai SA Mutation in the tRNAlelett(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies.Nature 1990;348:651.
  • 4[4]Ciafaloni C,Ricci E,Riabfaloni E,et al.MELAS:clinical features,biochemistry,and molecular genetics.Ann Neurol 1992;31:391-398.
  • 5[5]Hess J F,Parisi MA,Bennett J L,et al.Impairment of mitochondrial transcription termination by appoint mutation associated with the MELAS subgroup of mitochondrial encephalomyopathies.Nature 1991;351:236.
  • 6[6]Poulton J,Morten K.Noninvasive diagnosis of the MELAS syndrome from blood DNA.Ann Neurol 1993;34:116.
  • 7[7]Suonalainen A,Majander A,Pinko H,et al.Quantificatio of tRNA lett(UUR) point mutatio of mitochondrial DNA in MELAS patients and its effects on mitochondrial transcription.Hum Mol Genet 1993;2:525.
  • 8[8]Koga Y,Akita Y,Takane N,et al.Heterogeneous presentation in A3243G mutatio in the mitochondrial tRNAlett(UUR)gene.Arch Dis Child 2000;82:407.
  • 9王朝霞,刘淑萍,杨艳玲,沈定国,吴丽娟,戚豫,陈清棠.线粒体脑肌病伴高乳酸血症和卒中样发作综合征的线粒体DNA突变特点[J].中华神经科杂志,2001,34(5):295-298. 被引量:20
  • 10[10]Nariai T Ohno K,Akimoto H,etal.Cerebral blood flow vascular response and metabolism in patients with MELAS syndrome-xenon CT and PET study.Keio J Med 2000;49:S1 A 68.

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共引文献19

同被引文献3

  • 1Kiechle FL,kaul KL,Farkas DH.Mitochondial disorders:methods and specimen selection for diagnostic molecular pathology.Arch pathol Lab Med,1996;120:597
  • 2陈清棠.临床神经病学(第4版)[M].北京:科学技术出版社,2002.760.
  • 3冉鸿,史树贵.线粒体肌病1例[J].第三军医大学学报,2003,25(4):338-338. 被引量:1

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