Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

被引：22
|
作者：
Pasanisi, Maria Barbara [1 ]
Missaglia, Sara [2 ]
Cassandrini, Denise [3 ]
Salerno, Franco [1 ]
Farina, Stefania [4 ]
Andreini, Daniele [4 ,5 ]
Agostoni, Piergiuseppe [4 ,5 ]
Morandi, Lucia [1 ]
Mora, Marina [1 ]
Tavian, Daniela [2 ]
机构：
[1] Fdn IRCCS Ist Neurol Carlo Besta, Neuromuscular Dis & Neuroimmunol, Milan, Italy
[2] Univ Cattolica Sacro Cuore, CRIBENS, Lab Cellular Biochem & Mol Biol, Largo Gemelli 1, I-20123 Milan, Italy
[3] IRCCS Stella Maris, Mol Med, Pisa, Italy
[4] IRCCS, Ctr Cardiol Monzino, Milan, Italy
[5] Univ Milan, Dept Clin & Community Sci, Milan, Italy
来源：
INTERNATIONAL JOURNAL OF CARDIOLOGY | 2016年 / 207卷
关键词：
Neutral lipid storage disease; Myopathy; Cardiomyopathy; Triacylglycerol; Lipid droplet; PNPLA2/ATGL; LIPID STORAGE DISEASE; DEPOSIT CARDIOMYOVASCULOPATHY; MISSENSE MUTATIONS; MYOPATHY; PHENOTYPE;
D O I：
10.1016/j.ijcard.2016.01.137
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
[No abstract available]
引用
收藏
页码：165 / 167
页数：3
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