Fatal neonatal outcome in a case of muscular mitochondrial DNA depletion.

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作者信息

Poggi G M, Lamantea E, Ciani F, Donati M A, Carrara F, Bartalena L, Garavaglia B, Zammarchi E

机构信息

Dipartimento di Pediatria, Università degli Studi di Firenze, Florence, Italy.

出版信息

J Inherit Metab Dis. 2000 Nov;23(7):755-7. doi: 10.1023/a:1005663804214.

DOI:10.1023/a:1005663804214

PMID:11117438

Abstract

摘要

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引用本文的文献

Clinical and molecular features of mitochondrial DNA depletion syndromes.线粒体DNA耗竭综合征的临床和分子特征

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本文引用的文献

Clinical manifestations of mitochondrial DNA depletion.线粒体DNA耗竭的临床表现。

Neurology. 1998 Jun;50(6):1783-90. doi: 10.1212/wnl.50.6.1783.

Fatal neonatal liver failure and depletion of mitochondrial DNA in three children of one family.

J Inherit Metab Dis. 1996;19(2):112-4. doi: 10.1007/BF01799406.

Deficiency of the human mitochondrial transcription factor h-mtTFA in infantile mitochondrial myopathy is associated with mtDNA depletion.婴儿线粒体肌病中人类线粒体转录因子h-mtTFA的缺乏与线粒体DNA耗竭有关。

Hum Mol Genet. 1994 Oct;3(10):1763-9. doi: 10.1093/hmg/3.10.1763.

mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.线粒体DNA耗竭伴组织表达可变：线粒体疾病中的一种新型基因异常

Am J Hum Genet. 1991 Mar;48(3):492-501.

Fatal infantile liver failure associated with mitochondrial DNA depletion.与线粒体DNA耗竭相关的致命性婴儿肝衰竭

J Pediatr. 1992 Dec;121(6):896-901. doi: 10.1016/s0022-3476(05)80335-x.

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