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

Maria Barbara Pasanisi; Sara Missaglia; Denise Cassandrini; Franco Salerno; Stefania Farina; Daniele Andreini; Piergiuseppe Agostoni; Lucia Morandi; Marina Mora; Daniela Tavian

doi:10.1016/j.ijcard.2016.01.137

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

Maria Barbara Pasanisi, Sara Missaglia, Denise Cassandrini, Franco Salerno, Stefania Farina, Daniele Andreini, Piergiuseppe Agostoni, Lucia Morandi, Marina Mora, Daniela Tavian

Fondazione Stella Maris

Research output: Contribution to journal › Article › peer-review

Original language	English
Pages (from-to)	165-167
Number of pages	3
Journal	International Journal of Cardiology
Volume	207
DOIs	https://doi.org/10.1016/j.ijcard.2016.01.137
Publication status	Published - Mar 15 2016

Keywords

Cardiomyopathy
Lipid droplet
Myopathy
Neutral lipid storage disease
PNPLA2/ATGL
Triacylglycerol

ASJC Scopus subject areas

Cardiology and Cardiovascular Medicine

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10.1016/j.ijcard.2016.01.137

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Pasanisi, M. B., Missaglia, S., Cassandrini, D., Salerno, F., Farina, S., Andreini, D., Agostoni, P., Morandi, L., Mora, M., & Tavian, D. (2016). Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene. International Journal of Cardiology, 207, 165-167. https://doi.org/10.1016/j.ijcard.2016.01.137

Pasanisi, MB, Missaglia, S, Cassandrini, D, Salerno, F, Farina, S, Andreini, D, Agostoni, P, Morandi, L, Mora, M & Tavian, D 2016, 'Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene', International Journal of Cardiology, vol. 207, pp. 165-167. https://doi.org/10.1016/j.ijcard.2016.01.137

@article{fe7ab67eb41b478290afc7e43c09eff3,

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

keywords = "Cardiomyopathy, Lipid droplet, Myopathy, Neutral lipid storage disease, PNPLA2/ATGL, Triacylglycerol",

author = "Pasanisi, {Maria Barbara} and Sara Missaglia and Denise Cassandrini and Franco Salerno and Stefania Farina and Daniele Andreini and Piergiuseppe Agostoni and Lucia Morandi and Marina Mora and Daniela Tavian",

year = "2016",

month = mar,

day = "15",

doi = "10.1016/j.ijcard.2016.01.137",

language = "English",

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T1 - Severe cardiomyopathy in a young patient with complete deficiency of adipose triglyceride lipase due to a novel mutation in PNPLA2 gene

AU - Pasanisi, Maria Barbara

AU - Missaglia, Sara

AU - Cassandrini, Denise

AU - Salerno, Franco

AU - Farina, Stefania

AU - Andreini, Daniele

AU - Agostoni, Piergiuseppe

AU - Morandi, Lucia

AU - Mora, Marina

AU - Tavian, Daniela

PY - 2016/3/15

Y1 - 2016/3/15

KW - Cardiomyopathy

KW - Lipid droplet

KW - Myopathy

KW - Neutral lipid storage disease

KW - PNPLA2/ATGL

KW - Triacylglycerol

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U2 - 10.1016/j.ijcard.2016.01.137

DO - 10.1016/j.ijcard.2016.01.137

M3 - Article

AN - SCOPUS:84957989669

SN - 0167-5273

VL - 207

SP - 165

EP - 167

JO - International Journal of Cardiology

JF - International Journal of Cardiology

ER -

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

Keywords

ASJC Scopus subject areas

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