“线粒体肌病”还是线粒体疾病？13例儿童的脑电图、视网膜电图、视觉诱发电位研究
"Mitochondrial myopathy" or mitochondrial disease? EEG, ERG, VEP studies in 13 children.
作者信息
Harden A, Pampiglione G, Battaglia A
出版信息
J Neurol Neurosurg Psychiatry. 1982 Jul;45(7):627-32. doi: 10.1136/jnnp.45.7.627.
Abstract
Neurophysiological investigations (EEG, ERG, VEP) were carried out in 13 patients with proven "mitochondrial myopathy". There were nine girls and four boys. Varied abnormalities were seen in the EEGs of all cases, and in one patient unusual repetitive bursts of irregular slow waves and spikes were observed. The ERG was abnormal in five of the 12 cases tested, while the VEP (flash) was definitely abnormal in six out of these 12 cases. These neurophysiological findings suggest some involvement of both the brain and the visual system. It seem therefore appropriate that this condition be considered a "mitochondrial disease" affecting many systems rather than only muscles.
摘要
对13例确诊为“线粒体肌病”的患者进行了神经生理学检查（脑电图、视网膜电图、视觉诱发电位）。其中有9名女孩和4名男孩。所有病例的脑电图均出现了各种异常，1例患者观察到异常的不规则慢波和尖波反复爆发。在12例接受测试的患者中，5例视网膜电图异常，而在这12例患者中，6例视觉诱发电位（闪光）明显异常。这些神经生理学发现提示大脑和视觉系统均有受累。因此，似乎有理由将这种疾病视为一种影响多个系统而非仅肌肉的“线粒体疾病”。
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"Mitochondrial myopathy" or mitochondrial disease? EEG, ERG, VEP studies in 13 children.“线粒体肌病”还是线粒体疾病？13例儿童的脑电图、视网膜电图、视觉诱发电位研究
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本文引用的文献
1
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J Clin Invest. 1962 Sep;41(9):1776-804. doi: 10.1172/JCI104637.
2
Cockayne's syndrome. An heredo-familial disorder of growth and development.科凯恩综合征。一种遗传性家族性生长发育障碍。
Pediatrics. 1960 Jun;25:997-1007.
3
Fisher syndrome in childhood.儿童费希尔综合征
Neurology. 1981 May;31(5):555-60. doi: 10.1212/wnl.31.5.555.
4
Mitochondrial myopathy and lactic acidaemia with myoclonic epilepsy, ataxia and hypothalamic infertility: a variant of Ramsay-Hunt syndrome?伴有肌阵挛性癫痫、共济失调和下丘脑性不育的线粒体肌病和乳酸性血症：拉姆齐-亨特综合征的一种变异型？
J Neurol Neurosurg Psychiatry. 1981 Jan;44(1):79-82. doi: 10.1136/jnnp.44.1.79.
5
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J Neurol Sci. 1980 Jul;47(1):117-33. doi: 10.1016/0022-510x(80)90031-3.
6
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