由于复合体I缺乏导致的线粒体脑肌病患者的临床和分子异质性。 - Suppr

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超能文献

Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiency.

作者信息

Ichiki T, Kobayashi M, Wada Y, Tanaka M, Ozawa T

机构信息

Department of Pediatrics, Nagoya City University Medical School, Japan.

出版信息

J Inherit Metab Dis. 1988;11(3):333-6. doi: 10.1007/BF01800387.

DOI:10.1007/BF01800387

PMID:3148084

Abstract

摘要

相似文献

Clinical and molecular heterogeneity in patients with mitochondrial encephalomyopathies due to complex I deficiency.由于复合体I缺乏导致的线粒体脑肌病患者的临床和分子异质性。

J Inherit Metab Dis. 1988;11(3):333-6. doi: 10.1007/BF01800387.

Familial mitochondrial complex I deficiency with an abnormal mitochondrial encoded protein.伴有异常线粒体编码蛋白的家族性线粒体复合体I缺乏症。

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[Neurological approach to mitochondrial abnormalities].[线粒体异常的神经学研究方法]

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Mitochondrial myopathies: deficiencies localized to complex I and complex III of the mitochondrial respiratory chain.线粒体肌病：线粒体呼吸链复合体I和复合体III存在局部缺陷。

Biochem Soc Trans. 1985 Aug;13(4):648-50. doi: 10.1042/bst0130648.

Mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes syndrome and NADH-CoQ reductase deficiency.线粒体肌病、脑病、乳酸酸中毒和卒中样发作综合征以及NADH-辅酶Q还原酶缺乏症。

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Biochemical and molecular aspects of human mitochondrial respiratory chain disorders.人类线粒体呼吸链疾病的生化与分子层面

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本文引用的文献

A microspectrophotometric method for the determination of cytochrome oxidase.一种测定细胞色素氧化酶的显微分光光度法。

J Biol Chem. 1951 Apr;189(2):665-70.

An electron-transport system associated with the outer membrane of liver mitochondria. A biochemical and morphological study.与肝线粒体外膜相关的电子传递系统。一项生化与形态学研究。

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Separation of mammalian cytochrome c oxidase into 13 polypeptides by a sodium dodecyl sulfate-gel electrophoretic procedure.采用十二烷基硫酸钠凝胶电泳法将哺乳动物细胞色素c氧化酶分离为13种多肽。

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Mitochondrial myopathies.线粒体肌病

Ann Neurol. 1985 Jun;17(6):521-38. doi: 10.1002/ana.410170602.

URF6, last unidentified reading frame of human mtDNA, codes for an NADH dehydrogenase subunit.URF6，人类线粒体DNA的最后一个未鉴定阅读框，编码一种NADH脱氢酶亚基。

Science. 1986 Oct 31;234(4776):614-8. doi: 10.1126/science.3764430.

Variation in the levels of complex I subunits among tissues in a patient with mitochondrial encephalomyopathy and renal dysfunction.一名患有线粒体脑肌病和肾功能不全患者各组织中复合物I亚基水平的差异。

Biochem Int. 1987 Apr;14(4):735-9.

Deficiency of subunits of Complex I and mitochondrial encephalomyopathy.复合体I亚基缺乏与线粒体脑肌病

Ann Neurol. 1988 Mar;23(3):287-94. doi: 10.1002/ana.410230312.

Congenital deficiency of two polypeptide subunits of the iron-protein fragment of mitochondrial complex I.线粒体复合物I的铁蛋白片段的两个多肽亚基先天性缺乏。

J Clin Invest. 1987 Feb;79(2):463-7. doi: 10.1172/JCI112834.

The mitochondrial electron transport and oxidative phosphorylation system.线粒体电子传递与氧化磷酸化系统。

Annu Rev Biochem. 1985;54:1015-69. doi: 10.1146/annurev.bi.54.070185.005055.

Pyruvate oxidation in rat and human skeletal muscle mitochondria.

Biochem Med. 1978 Dec;20(3):395-403. doi: 10.1016/0006-2944(78)90089-3.

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