渐进式外侧眼 - 一个病例报告
Ashmeet Kaur1, Kusum Mathur1, Anita Harsh1
1Department of Pathology, SMS Medical College, Jaipur, Rajasthan, India.
Indian journal of pathology & microbiology
|December 12, 2023
概括
渐进性外部眼膜,一种遗传性线粒体肌肉病,通常会影响眼睛肌肉. 这份报告详细介绍了一个罕见的16岁女性病例,强调了特征性的组织学发现.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 眼科医生 眼科 眼科
背景情况:
- 渐进性外部眼 (PEO) 是一种遗传性线粒体肌肉病,影响眼外肌肉.
- 线粒体疾病往往具有重叠的临床,酶和遗传特征.
- 复合体I和IV的综合缺陷是PEO中最常见的酶缺陷.
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