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Updated: Jul 17, 2026

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对OPTN在肌缩侧面硬化症中的遗传和临床分析

Yi Xiao1, Yushan Tan1, Chunyu Li1

  • 1Department of Neurology, Sichuan University, Chengdu, Sichuan, China.

Journal of medical genetics
|January 8, 2025
PubMed
概括

肌缩侧面硬化症 (ALS) 患者具有光素 (OPTN) 基因突变,表现出各种症状. 致病性OPTN变体与ALS患者的疾病进展速度更快和生存时间更短有关.

关键词:
基因频率 基因频率运动神经元疾病 运动神经元疾病现象型 现象型 是一种表现型.预测 预后 预测 预测

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