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

Author: Ye TIAN ^{1
,

2
,

3
,

4} ; Shiyao WANG ^{1
,

2
,

3
,

4} ; Fang WANG ⁵ ; Li YI ^{1
,

2
,

3
,

4} ; Mingrui DONG ⁶ ; Xu HUANG ^{1
,

2
,

3
,

4}
Author Information

1. Department of Pulmonary and Critical Care Medicine, Center of Respiratory Medicine, China-Japan Friendship Hospital
2. National Center for Respiratory Medicine
3. Institute of Respiratory Medicine, Chinese Academy of Medical Sciences
4. National Clinical Research Center for Respiratory Diseases, Beijing 100029, China.
5. Department of Cardiology, China-Japan Friendship Hospital, Beijing 100029, China.
6. 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