Novel mutations in RSPH4A and TTN genes lead to primary ciliary dyskinesia-hereditary myopathy with early respiratory failure overlap syndrome

作     者：Mengjie Feng Xiu Yu Yongjian Yue Jiacheng Zhong Lingwei Wang Mengjie Feng;Xiu Yu;Yongjian Yue;Jiacheng Zhong;Lingwei Wang

作者机构：Department of Respiratory and Critical Care MedicineShenzhen Key Laboratory of Respiratory DiseasesShenzhen Respiratory Disease Prevention CenterShenzhen Institute of Respiratory DiseasesShenzhen People's Hospital(Second Clinical Medical College of Jinan University&First Affiliated Hospital of Southern University of Science and Technology)ShenzhenGuangdong 518020China 

出 版 物：《Genes & Diseases》 (基因与疾病（英文）)

年 卷 期：2023年第10卷第3期

页      面：743-745页

核心收录：

学科分类：0710[理学-生物学] 1002[医学-临床医学] 10[医学] 

基　　金：supported by the Sustainable Development Project of Shenzhen Science and Technology Innovation Commission(China)(No.KCXFZ202002011008256) the Basic Research Project of Shenzhen Science and Technology Innovation Commission(China)(No.JCYJ20170307095633450) the National Natural Science Foundation of China(NSFC81925001). 

主　　题：respiratory impaired Primary 

摘      要：Primary ciliary dyskinesia(PCD)is an autosomal recessive disease caused by defects in motile cilia and clinically characterized by bronchiectasis,situs inversus,nasosinusitis,recurrent respiratory infections,tympanitis,and/or male infertility.In PCD,impaired function or structure of motile cilia leads to abnormality of mucociliary clearance。