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

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. Around 50 c...

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Detalles Bibliográficos
Autores principales:	Zhang, Wei, Wen, Bing, Lu, Jun, Zhao, Yawen, Hong, Daojun, Zhao, Zhe, Zhang, Cheng, Luo, Yuebei, Qi, Xueliang, Zhang, Yingshuang, Song, Xueqin, Zhao, Yuying, Zhao, Chongbo, Hu, Jing, Yang, Huan, Wang, Zhaoxia, Yan, Chuanzhu, Yuan, Yun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2019
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6815004/ https://www.ncbi.nlm.nih.gov/pubmed/31655616 http://dx.doi.org/10.1186/s13023-019-1209-z

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