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患有慢性渐进性外眼 (CPEO) 的患者的庞丁性中风:一个病例报告
Yazan Eliyan1, Kourosh Rezania2, Christopher M Gomez2
1Pritzker School of Medicine, University of Chicago, Chicago, IL, USA.
BMC neurology
|June 14, 2023
概括
这项研究报告了TWNK基因的新型突变,导致慢性渐进性外部眼 (CPEO),一种线粒体疾病. 这位患者出现了突性中风,突出了这种遗传疾病的罕见表现.
科学领域:
- 遗传学 遗传学 是一个
- 神经学 神经学
- 线粒体疾病 线粒体疾病
背景情况:
- 慢性渐进性外部眼膜 (CPEO) 是一种线粒体肌肉病,其特征是渐进的双边亡和外部眼膜.
- 诸如POLG,RRM2B,ANT1和PEO1/TWNK等基因的遗传突变通常与CPEO有关.
- 氧化酸化缺陷是CPEO病变的基础.
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