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Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.

作者信息

Hart Z H, Chang C H, Perrin E V, Neerunjun J S, Ayyar R

出版信息

Arch Neurol. 1977 Mar;34(3):180-5. doi: 10.1001/archneur.1977.00500150066013.

DOI:10.1001/archneur.1977.00500150066013
PMID:843250
Abstract

We describe a 16-year-old boy who has a progressive dementia and seizures. On investigation, he was found to have a mitochondrial myopathy and elevated lactate levels in the blood and cerebrospinal fluid. His sister died at 18 years of age of a similar condition.

摘要

相似文献

1
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.
Arch Neurol. 1977 Mar;34(3):180-5. doi: 10.1001/archneur.1977.00500150066013.
2
Familial poliodystrophy, mitochondrial myopathy, and lactate acidemia.
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Progressive infantile poliodystrophy. Association with disturbed pyruvate oxidation in muscle and liver.进行性婴儿脊髓灰质炎。与肌肉和肝脏中丙酮酸氧化紊乱有关。
Arch Neurol. 1981 Dec;38(12):767-72. doi: 10.1001/archneur.1981.00510120067011.
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Progressive cerebral poliodystrophy--Alpers' disease. Disorganized giant neuronal mitochondria on electron microscopy.进行性脑脊髓灰质炎样萎缩症——阿尔珀斯病。电子显微镜下可见巨大神经元线粒体结构紊乱。
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Mitochondrial DNA depletion in Alpers syndrome.阿尔珀斯综合征中的线粒体DNA耗竭。
Neuropediatrics. 2004 Aug;35(4):217-23. doi: 10.1055/s-2004-821081.
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Diffuse leukodystrophy with a large-scale mitochondrial DNA deletion.伴有大规模线粒体DNA缺失的弥漫性脑白质营养不良
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[Alpers' infantile cerebral poliodystrophy. A case with abnormal hepatic pyruvate carboxylase].
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Eur J Pediatr. 1986 Feb;144(5):441-4. doi: 10.1007/BF00441735.

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Acta Neuropathol. 1987;74(3):226-33. doi: 10.1007/BF00688185.
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Acta Neuropathol. 1987;75(1):1-7. doi: 10.1007/BF00686785.
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Mitochondrial encephalo-neuro-myopathy with myoclonus epilepsy, basal nuclei calcification and hyperlactacidemia.
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