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Updated: Jun 22, 2025

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在患有肌缩性侧面硬化症的患者中确定ARPP21中的病原性突变

Oriol Dols-Icardo1,2, Álvaro Carbayo3,4,5, Ivonne Jericó6,7

  • 1Sant Pau Memory Unit, Department of Neurology, Hospital de la Santa Creu i Sant Pau, Institut d'Investigació Biomèdica Sant Pau (IIB Sant Pau), Barcelona, Spain rrojas@santpau.cat odols@santpau.cat.

Journal of neurology, neurosurgery, and psychiatry
|July 3, 2024
PubMed
概括

基因测试发现了一种新型基因,循环AMP调节光蛋白21 (ARPP21),是肌缩侧面硬化症 (ALS) 的原因. 这一发现为以前未知的遗传起源的家族ALS病例提供了新的见解.

关键词:
这就是ALS.流行病学 流行病学面向时间性痴呆症 面向时间性痴呆这是遗传学.运动神经元疾病 运动神经元疾病

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