相关实验视频
Updated: May 2, 2026

Surgical Treatment of an Endolymphatic Sac Tumor
Published on: May 26, 2023
在SURF1相关的利氏综合征中,骨和脊髓神经增强
Mhairi Dupré1, Richard Warne1, Peter Shipman1
1Medical Imaging Department, Perth Children's Hospital, Perth, 6009, Australia.
利氏综合征是一种线粒体疾病,可以影响神经根. 本案例研究详细介绍了一名被诊断患有SURF1相关的李氏综合征的儿童的头骨和脊髓神经根增强.
科学领域:
- 儿科神经学 儿科神经学
- 线粒体遗传学 线粒体遗传学
- 神经成像是一种神经成像.
背景情况:
- 李氏综合征是婴儿和幼儿时期的一种严重的多系统性疾病,主要影响中枢神经系统.
- 基因突变,特别是影响线粒体功能的线粒体DNA或核基因的基因突变,是潜在的原因.
- SURF1基因变异是利氏综合征的已知原因,影响线粒体细胞染色体c氧化酶活性.
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