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

页码：165 / 167

页数：3

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