Investigation of mitochondrial disease.
作者信息
Poulton J, Brown G K
机构信息
Department of Paediatrics, University of Oxford, John Radcliffe Hospital, Headington.
出版信息
Arch Dis Child. 1995 Aug;73(2):94-7. doi: 10.1136/adc.73.2.94-a.
Abstract
摘要
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本文引用的文献
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Noninvasive diagnosis of the MELAS syndrome from blood DNA.基于血液DNA的线粒体脑肌病伴乳酸血症和卒中样发作综合征的无创诊断
Ann Neurol. 1993 Jul;34(1):116. doi: 10.1002/ana.410340124.
2
The mitochondrial DNA mutation at 8993 associated with NARP slows the rate of ATP synthesis in isolated lymphoblast mitochondria.与NARP相关的8993位点线粒体DNA突变会减缓分离的淋巴母细胞线粒体中ATP的合成速率。
Biochem Biophys Res Commun. 1993 Apr 15;192(1):124-8. doi: 10.1006/bbrc.1993.1390.
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Leber's hereditary optic neuropathy. Clinical manifestations of the 14484 mutation.莱伯遗传性视神经病变。14484突变的临床表现。
Arch Ophthalmol. 1993 Apr;111(4):495-8. doi: 10.1001/archopht.1993.01090040087038.
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A second missense mutation in the mitochondrial ATPase 6 gene in Leigh's syndrome.利氏综合征中线粒体ATP酶6基因的第二个错义突变。
Ann Neurol. 1993 Sep;34(3):410-2. doi: 10.1002/ana.410340319.
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The expanding clinical spectrum of mitochondrial diseases.线粒体疾病不断扩展的临床谱。
Brain Dev. 1993 Jan-Feb;15(1):1-22. doi: 10.1016/0387-7604(93)90002-p.
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Mitochondrial ribosomal RNA gene mutation in a patient with sporadic aminoglycoside ototoxicity.一名散发性氨基糖苷类耳毒性患者的线粒体核糖体RNA基因突变
Am J Otolaryngol. 1993 Nov-Dec;14(6):399-403. doi: 10.1016/0196-0709(93)90113-l.
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Hum Mol Genet. 1994 Jun;3(6):947-51. doi: 10.1093/hmg/3.6.947.
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Multiple deletions of mtDNA in two brothers with sideroblastic anemia and mitochondrial myopathy and in their asymptomatic mother.两名患有铁粒幼细胞贫血和线粒体肌病的兄弟及其无症状母亲的线粒体DNA存在多处缺失。
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Mitochondrial DNA mutation associated with Leber's hereditary optic neuropathy.与莱伯遗传性视神经病变相关的线粒体DNA突变。
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