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Updated: May 5, 2026

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利氏病与SURF1突变相关的显著成像标记:儿童病例研究

Rama Krishna Narra¹, Reshma Vemuri²

¹Department of Radiodiagnosis, Katuri Medical College, Guntur, India.

The American journal of case reports

|July 31, 2024

概括

由SURF1基因突变引起的李氏病 (LD) 呈现出特定的大脑病变. 通过成像和基因检测进行早期诊断对于小儿线粒体疾病的干预和咨询至关重要.

科学领域:

神经科学是一个神经科学.
遗传学是一个遗传学.
儿科儿科儿科

背景情况:

李氏病 (LD) 是一种罕见的,渐进的线粒体神经退行性疾病.
导致细胞染色体C氧化酶缺乏的SURF1基因突变占LD病例的15%.
早期遗传诊断对于儿童患者的干预和咨询至关重要.

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