Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

Neutral lipid storage disease with myopathy in China: a large multicentric cohort study

Abstract Background Neutral lipid storage disease with myopathy (NLSDM) is a rare clinical heterogeneous disorder caused by mutations in the patatin-like phospholipase domain-containing 2 (PNPLA2) gene. NLSDM usually presents skeletal myopathy, cardiomyopathy and the multiple organs dysfunction. Aro...

Full description

Bibliographic Details
Main Authors: Wei Zhang, Bing Wen, Jun Lu, Yawen Zhao, Daojun Hong, Zhe Zhao, Cheng Zhang, Yuebei Luo, Xueliang Qi, Yingshuang Zhang, Xueqin Song, Yuying Zhao, Chongbo Zhao, Jing Hu, Huan Yang, Zhaoxia Wang, Chuanzhu Yan, Yun Yuan
Format: Article
Language:English
Published: BMC 2019-10-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Neutral lipid storage disease with myopathy
Patatin-like phospholipase domain-containing 2
Rimmed vacuole
Skeletal myopathy
Cardiomyopathy
Online Access:http://link.springer.com/article/10.1186/s13023-019-1209-z

Internet

http://link.springer.com/article/10.1186/s13023-019-1209-z

Similar Items