A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review-Reference-Cited by-同舟云学术

A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review

Published:2014-07 Issue:7 Volume:24 Page:634-641
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Kaneko Kimihiko,Kuroda Hiroshi,Izumi Rumiko,Tateyama Maki,Kato Masaaki,Sugimura Koichiro,Sakata Yasuhiko,Ikeda Yoshihiko,Hirano Ken-ichi,Aoki Masashi

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference26 articles.

1. Lipid storage myopathy;Liang;Curr Neurol Neurosci Rep,2011

2. Triglyceride deposit cardiomyovasculopathy;Hirano;N Engl J Med,2008

3. A novel type of human spontaneous coronary atherosclerosis with triglyceride deposition;Ikeda;Eur Heart J,2014

4. Fat mobilization in adipose tissue is promoted by adipose triglyceride lipase;Zimmermann;Science,2004

5. The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy;Fischer;Nat Genet,2007

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