病例报告:一个罕见的变异m.4135T>C在
Tereza Rákosníková1, Silvie Kelifová1, Hana Štufková1
1Laboratory for Study of Mitochondrial Disorders, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine and General University Hospital in Prague, Charles University, Prague, Czechia.
Frontiers in genetics
|June 5, 2023
概括
勒伯遗传性视神经病变 (LHON) 是一种线粒体疾病,导致视力丧失. 一种罕见的MT-ND1基因变异 (m.4135T>C) 损害了线粒体复合体I功能,在与外部触发物相结合时导致LHON症状.
科学领域:
- 遗传学 遗传学是一种遗传学.
- 线粒体生物学 线粒体生物学
- 眼科医生 眼科 眼科
背景情况:
- 勒伯遗传性视神经病变 (LHON) 是一种主要的线粒体疾病.
- 它的特征是由于视网膜质细胞退化导致的急性视力损失.
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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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