家族性凯-塞尔综合征
Familial Kearns-Sayre syndrome.
作者信息
Schnitzler E R, Robertson W C
出版信息
Neurology. 1979 Aug;29(8):1172-4. doi: 10.1212/wnl.29.8.1172.
PMID:572507
Abstract
The Kearns-Sayre syndrome (KSS) is a distinctive type of progressive external ophthalmoplegia, characterized by pigmentary degeneration of the retina, heart block, elevated concentration of cerebrospinal fluid protein, and abnormal muscle mitochondria. Previously described cases have all been sporadic. Consequently, viral infections and autoimmune disorders have been proposed as etiologies. The occurrence of KSS in two brothers suggests that genetic factors may play a role in the pathogenesis of some cases.
摘要
卡恩斯-塞尔综合征（KSS）是一种独特类型的进行性眼外肌麻痹，其特征为视网膜色素变性、心脏传导阻滞、脑脊液蛋白浓度升高以及肌肉线粒体异常。先前报道的病例均为散发性。因此，有人提出病毒感染和自身免疫性疾病可能是其病因。两兄弟均患KSS这一情况表明，遗传因素可能在某些病例的发病机制中起作用。
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Familial Kearns-Sayre syndrome.家族性凯-塞尔综合征
Neurology. 1979 Aug;29(8):1172-4. doi: 10.1212/wnl.29.8.1172.
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Different copy numbers of apparently identically deleted mitochondrial DNA in tissues from a patient with Kearns-Sayre syndrome detected by PCR.通过聚合酶链反应（PCR）检测到，患有卡恩斯-塞尔综合征（Kearns-Sayre syndrome）的患者组织中，明显相同缺失的线粒体DNA存在不同的拷贝数。
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[A case of Kearns-Sayre syndrome].[一例卡恩斯-塞尔综合征病例]
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Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?线粒体DNA重复是卡恩斯-塞尔综合征的特征吗？
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引用本文的文献
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Arch Dis Child. 1981 Oct;56(10):741-52. doi: 10.1136/adc.56.10.741.
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Kearns syndrome: a heterogeneous group of disorders with CPEO, or a nosological entity?卡恩斯综合征：一组伴有慢性进行性眼外肌麻痹的异质性疾病，还是一种疾病分类实体？
Doc Ophthalmol. 1982 Jan 29;52(3-4):207-25. doi: 10.1007/BF01675852.
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Mitochondrial myopathy: a genetic study of 71 cases.线粒体肌病：71例的遗传学研究
J Med Genet. 1988 Aug;25(8):528-35. doi: 10.1136/jmg.25.8.528.
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Muscle mitochondrial DNA in encephalomyopathy and ragged red fibres: a Southern blot analysis and literature review.脑肌病和破碎红纤维中的肌肉线粒体DNA：Southern印迹分析及文献综述
J Neurol. 1991 Jun;238(3):171-6. doi: 10.1007/BF00319685.
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