Whole exome sequencing and functional validation identify CAPN1 variants as a cause of Chinese moyamoya disease  

作　　者：Yue Wang Zhengxing Zou Zhibin Yang Zhengshan Zhang Jun Xu Fangbin Hao Juan Shen Cong Han Wanyang Liu Lian Duan 

机构地区：[1]Department of Nutrition and Food Hygiene,School of Public Health,China Medical University,Shenyang,Liaoning 110122,China [2]Division of Pneumoconiosis,School of Public Health,China Medical University,Shenyang,Liaoning 110122,China [3]Department of Neurosurgery,The Fifth Medical Centre,Chinese PLA General Hospital(Former 307th Hospital of the PLA),Beijing 100071,China

出　　处：《Genes & Diseases》2024年第4期35-38,共4页基因与疾病（英文）

基　　金：supported by the National Natural Science Foundation of China(No.82173610).

摘　　要：Moyamoyadisease(MMD,MIM607151)is a rarevascular condition that has high recurrence,mortality,and disability rates,and an effective treatment for this disease is currently lacking.The main symptoms of affected children and adults include ischemic and hemorrhagic strokes,with an age of onset that follows a bimodal distribution trend at approximately 5 and 40 years of age.

关 键 词：MORTALITY WHOLE MODAL 

分 类 号：R743[医药卫生—神经病学与精神病学]