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 Alessandra 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 Alessandra Cassandrini, Franco Salerno, Stefania Farina, Daniele Andreini, Piergiuseppe Agostoni, Lucia Morandi, Marina Mora, Daniela Tavian

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. A., 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, DA, 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

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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 Cassandrini, {Denise Alessandra} 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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journal = "International Journal of Cardiology",

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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 Alessandra

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

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

Access to Document

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