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 

机构地区：[1]Department of Respiratory and Critical Care Medicine,Shenzhen Key Laboratory of Respiratory Diseases,Shenzhen Respiratory Disease Prevention Center,Shenzhen Institute of Respiratory Diseases,Shenzhen People's Hospital(Second Clinical Medical College of Jinan University&First Affiliated Hospital of Southern University of Science and Technology),Shenzhen,Guangdong 518020,China

出　　处：《Genes & Diseases》2023年第3期743-745,共3页基因与疾病（英文）

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).

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。

关 键 词：RESPIRATORY IMPAIRED Primary 

分 类 号：R563.8[医药卫生—呼吸系统]