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

Highlights • We presented a case of NLSDM/TGCV caused by a novel mutation (c.576delC) in PNPLA2. • The case presented marked-asymmetric skeletal myopathy and cardiomyovasculopathy. • The main clinical feature of 37 NLSDM cases was asymmetric myopathy. • Cardiomyopathy, hyperlipidemia, DM, and pancre...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2014-07, Vol.24 (7), p.634-641
Hauptverfasser:	Kaneko, Kimihiko, Kuroda, Hiroshi, Izumi, Rumiko, Tateyama, Maki, Kato, Masaaki, Sugimura, Koichiro, Sakata, Yasuhiko, Ikeda, Yoshihiko, Hirano, Ken-ichi, Aoki, Masashi
Format:	Artikel
Sprache:	eng
Schlagworte:	Adipose triglyceride lipase Asymmetric myopathy Cardiomyopathies - genetics Cardiomyopathies - pathology Coronary Angiography Coronary Artery Disease - genetics Coronary Artery Disease - pathology Genotyping Techniques Humans Lipase - genetics Lipid Metabolism, Inborn Errors - genetics Lipid Metabolism, Inborn Errors - pathology Male Microscopy, Electron, Transmission Middle Aged Muscle, Skeletal - pathology Muscular Diseases - genetics Muscular Diseases - pathology Mutation Neurology Neutral lipid storage disease with myopathy Patatin-like phospholipase domain-containing 2 Phenotype Tomography, X-Ray Computed Triglyceride deposit cardiomyovasculopathy Triglycerides - metabolism
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Zusammenfassung:	Highlights • We presented a case of NLSDM/TGCV caused by a novel mutation (c.576delC) in PNPLA2. • The case presented marked-asymmetric skeletal myopathy and cardiomyovasculopathy. • The main clinical feature of 37 NLSDM cases was asymmetric myopathy. • Cardiomyopathy, hyperlipidemia, DM, and pancreatitis were frequently seen in NLSDM. • PNPLA2 mutations concentrated in Exon 4–7 without genotype-phenotype correlations.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2014.04.001