Title: | A novel mutation in PNPLA2 causes neutral lipid storage disease with myopathy and triglyceride deposit cardiomyovasculopathy: A case report and literature review |
Journal : | Neuromuscular disorders : NMD, 24, 7 |
Authors: | Kaneko K ; Kuroda H ; Izumi R ; Tateyama M ; Kato M ; Sugimura K ; Sakata Y ; Ikeda Y ; Hirano K ; Aoki M |
Material Type: | Article |
Publication Date: | 2014 |
Size: | p 634 |
Languages: | English |
Keywords : | ATGL related disease ; cardiomyopathy ; case studies ; genetic mutations ; genotype-phenotype correlation ; neutral lipid storage disorder with myopathy ; PNPLA2 gene ; reviews ; triglyceride lipase ; vascular diseases |
Keywords: | Adipose triglyceride lipase;Asymmetric myopathy;Neutral lipid storage disease with myopathy;Patatin-like phospholipase domain-containing 2;Triglyceride deposit cardiomyovasculopathy; |
Pubmed / DOI : | DOI : 10.1016/j.nmd.2014.04.001 / Pubmed : 24836204 |
Link for e-copy: | http://www.ncbi.nlm.nih.gov/pubmed/24836204 |