Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy

作     者：Ye Tian Shiyao Wang Fang Wang Li Yi Mingrui Dong Xu Huang Ye Tian;Shiyao Wang;Fang Wang;Li Yi;Mingrui Dong;Xu Huang

作者机构：Department of Pulmonary and Critical Care MedicineCenter of Respiratory MedicineChina-Japan Friendship HospitalNational Center for Respiratory MedicineInstitute of Respiratory MedicineChinese Academy of Medical SciencesNational Clinical Research Center for Respiratory DiseasesBejing 100029China Department of CardiologyChina-Japan Friendship HospitalBeijing 100029China Department of NeurologyChina-Japan Friendship HospitalBeijing 100029China. 

出 版 物：《Chinese Medical Journal》 (中华医学杂志（英文版）)

年 卷 期：2022年第135卷第19期

页      面：2389-2391页

核心收录：

学科分类：1002[医学-临床医学] 10[医学] 

基　　金：National Key Research and Development Program of China(No.2016YFC1304300) National Natural Science Foundation of China(No.81870072) National Natural Science Foundation of China(No.81700083) Chinese Academy of Medical Sciences(CAMS) Innovation Fund for Medical Sciences(No.2018-I2 M-1-003) Fund of China-Japan Friendship Hospital(No.2019-1-QN-58)。 

主　　题：myopathy rare cardiomyopathy 

摘      要：To the Editor:Neutral lipidd storage disease with myopathy(NLSDM)is a rare autosomal recessive disorder caused by mutations in the PNPLA2 gene.The gene encodes adipose triglyceride lipase(ATGL),an enzyme that catalyzes hydrolysis of triglycerides in mammalian adipose tissue and plays key roles in the function of lipid droplets(LDs).The results of many biochemical studies have revealed intracellular localization of ATGLwithLDs,but catalyticactivity iscompletely lost in the context of PNPLA2mutation.