Article
FLNC and MYLK2 Gene Mutations in a Chinese Family with Different Phenotypes of Cardiomyopathy.
International heart journal - 30 Jan 2021
Qin Xianyu, Li Ping, Qu Hui-Qi, Liu Yichuan, Xia Yu, Chen Shaoxian, Yang Yongchao, Huang Shufang, Wen Pengju, Zhou Xianwu, Li Xiaofeng, Wang Yonghua, Tian Lifeng, Hakonarson Hakon, Wu Yueheng, Zhuang Jian
Abstract excerpt
Mutations in the sarcomeric protein filamin C (FLNC) gene have been linked to hypertrophic cardiomyopathy (HCM), as they have been determined to increase the risk of ventricular arrhythmia and sudden death. Thus, in this study, we identified a novel missense mutation of FLNC in a Chinese family with HCM, and, interestingly, a second novel truncating mutation of MYLK2 was discobered in one family member with...
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