Late onset of neutral lipid storage disease due to a rare PNPLA2 mutation in a patient with myopathy and cardiomyopathy.
10.1097/CM9.0000000000002004
- Author:
Ye TIAN
1
;
Shiyao WANG
1
;
Fang WANG
2
;
Li YI
1
;
Mingrui DONG
3
;
Xu HUANG
1
Author Information
1. Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital; National Center for Respiratory Medicine; Institute of Respiratory Medicine, Chinese Academy of Medical Sciences; National Clinical Research Center for Respiratory Diseases, Beijing 100029, China.
2. Department of Cardiology, China-Japan Friendship Hospital, Beijing 100029, China.
3. Department of Neurology, China-Japan Friendship Hospital, Beijing 100029, China.
- Publication Type:Journal Article
- MeSH:
Humans;
Muscular Diseases/genetics*;
Cardiomyopathies/genetics*;
Lipid Metabolism, Inborn Errors/genetics*;
Mutation;
Lipids;
Muscle, Skeletal;
Acyltransferases/genetics*;
Lipase/genetics*
- From:
Chinese Medical Journal
2022;135(19):2389-2391
- CountryChina
- Language:English
