Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts.

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作者信息

Telerman-Toppet N, Biarent D, Bouton J M, de Meirleir L, Elmer C, Noel S, Vamos E, DiMauro S

机构信息

Laboratoire de Pathologie Neuromusculaire, Brugmann University Hospital, Université Libre de Bruxelles, Belgium.

出版信息

J Inherit Metab Dis. 1992;15(3):323-6. doi: 10.1007/BF02435967.

DOI:10.1007/BF02435967

PMID:1383604

Abstract

摘要

相似文献

Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts.

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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。

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Tissue specificity in cytochrome c oxidase deficient myopathy.

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Variation in mitochondrial DNA levels in muscle from normal controls. Is depletion of mtDNA in patients with mitochondrial myopathy a distinct clinical syndrome.正常对照者肌肉中线粒体DNA水平的变化。线粒体肌病患者的线粒体DNA耗竭是否为一种独特的临床综合征。

J Inherit Metab Dis. 1995;18(1):4-20. doi: 10.1007/BF00711367.

本文引用的文献

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region.一种常染色体显性疾病，线粒体DNA从D环区域开始出现多处缺失。

Nature. 1989 May 25;339(6222):309-11. doi: 10.1038/339309a0.

Cytochrome c oxidase deficiency.细胞色素c氧化酶缺乏症

Pediatr Res. 1990 Nov;28(5):536-41. doi: 10.1203/00006450-199011000-00025.

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.

Neurology. 1991 Feb;41(2 ( Pt 1)):300-5. doi: 10.1212/wnl.41.2_part_1.300.

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