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Updated: Jul 19, 2025

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Generation of Human Brain Organoids for Mitochondrial Disease Modeling
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李氏综合征:一个儿童疾病的成年表现
Taylor Watson-Fargie1, Victoria Marshall2, Natasha E Fullerton3
1Neurology, Institute of Neurological Sciences, Glasgow, UK taylor.watson-fargie2@nhs.scot.
Practical neurology
|August 11, 2023
概括
一个罕见的成年人莱氏综合征病例在一名27岁的男性身上被诊断出患有焦点发作和神经系统缺陷. 基因分析揭示了MT-ND3基因中的一种致病性线粒体DNA变体,证实了诊断.
科学领域:
- 神经学 神经学
- 遗传学 是一个遗传学.
- 线粒体生物学 线粒体生物学
背景情况:
- 李氏综合征是一种罕见的,严重的,进展性神经退行性疾病,通常在婴儿或幼儿时期出现.
- 成人发病的李氏综合征是不常见的,由于其稀有性和各种临床表现,这给诊断带来了挑战.
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