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

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

1
Fatal cytochrome c oxidase-deficient myopathy of infancy associated with mtDNA depletion. Differential involvement of skeletal muscle and cultured fibroblasts.
J Inherit Metab Dis. 1992;15(3):323-6. doi: 10.1007/BF02435967.
2
Fatal infantile mitochondrial myopathy due to cytochrome c oxidase deficiency.由于细胞色素c氧化酶缺乏导致的致命性婴儿线粒体肌病。
J Neurol Sci. 1983 Aug-Sep;60(3):453-63. doi: 10.1016/0022-510x(83)90156-9.
3
Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome-c-oxidase deficiency.由于细胞色素c氧化酶缺乏导致的致命性婴儿线粒体肌病和肾功能障碍。
Neurology. 1980 Aug;30(8):795-804. doi: 10.1212/wnl.30.8.795.
4
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.婴儿期致死性与良性细胞色素c氧化酶缺乏性肌病的鉴别诊断：一种免疫组织化学方法。
Neurology. 1991 Feb;41(2 ( Pt 1)):300-5. doi: 10.1212/wnl.41.2_part_1.300.
5
Different in situ hybridization patterns of mitochondrial DNA in cytochrome c oxidase-deficient extraocular muscle fibres in the elderly.老年人细胞色素c氧化酶缺陷的眼外肌纤维中线粒体DNA的不同原位杂交模式。
Virchows Arch A Pathol Anat Histopathol. 1993;422(1):7-15. doi: 10.1007/BF01605127.
6
Fatal lipid storage myopathy with deficiency of cytochrome-c-oxidase and carnitine. A contribution to the combined cytochemical-finestructural identification of cytochrome-c-oxidase in longterm frozen muscle.伴有细胞色素c氧化酶和肉碱缺乏的致死性脂质贮积性肌病。对长期冷冻肌肉中细胞色素c氧化酶的细胞化学-精细结构联合鉴定的贡献。
Virchows Arch A Pathol Anat Histopathol. 1983;399(1):11-23. doi: 10.1007/BF00666215.
7
Mitochondrial myopathy of childhood associated with depletion of mitochondrial DNA.与线粒体DNA耗竭相关的儿童线粒体肌病
Neurology. 1992 Jan;42(1):209-17. doi: 10.1212/wnl.42.1.209.
8
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.
9
Tissue specificity in cytochrome c oxidase deficient myopathy.
J Neurol Sci. 1989 Sep;92(2-3):193-203. doi: 10.1016/0022-510x(89)90136-6.
10
Adult onset lipid storage in gastric mucosa and skeletal muscle fibers associated with gastric pain, progressive muscle weakness and partial deficiency of cytochrome C oxidase.
Pathol Res Pract. 1991 Jan;187(1):85-95. doi: 10.1016/S0344-0338(11)81050-2.

引用本文的文献

1
Diagnostic value of succinate ubiquinone reductase activity in the identification of patients with mitochondrial DNA depletion.琥珀酸泛醌还原酶活性在鉴定线粒体DNA耗竭患者中的诊断价值。
J Inherit Metab Dis. 2002 Feb;25(1):7-16. doi: 10.1023/a:1015104910239.
2
Defects of intergenomic communication: where do we stand?基因组间通讯缺陷：我们目前的状况如何？
Brain Pathol. 2000 Jul;10(3):451-61. doi: 10.1111/j.1750-3639.2000.tb00277.x.
3
Early-onset encephalomyopathy associated with tissue-specific mitochondrial DNA depletion: a morphological, biochemical and molecular-genetic study.

本文引用的文献

1
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.
2
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.
3
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
J Neurol. 1995 Sep;242(9):547-56. doi: 10.1007/BF00868806.
4
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.
Am J Hum Genet. 1991 Mar;48(3):492-501.
4
Differential diagnosis of fatal and benign cytochrome c oxidase-deficient myopathies of infancy: an immunohistochemical approach.婴儿期致死性与良性细胞色素c氧化酶缺乏性肌病的鉴别诊断：一种免疫组织化学方法。
Neurology. 1991 Feb;41(2 ( Pt 1)):300-5. doi: 10.1212/wnl.41.2_part_1.300.