title: A novel mutation in PNPLA2 leading to neutral lipid storage disease with myopathy.
abstract: BACKGROUND
  Mutations in PNPLA2, a gene encoding adipose triglyceride lipase, lead to neutral lipid storage disease with myopathy.
  
  
  OBJECTIVE
  To report the clinical and molecular features of a case of neutral lipid storage disease with myopathy resulting from a novel mutation in PNPLA2.
  
  
  METHODS
  Case report.
  
  
  METHODS
  University hospital.
  
  
  METHODS
  A 65-year-old man with progressive muscle weakness and high serum creatine kinase levels.
  
  
  METHODS
  Direct sequencing of the PNPLA2 gene.
  
  
  RESULTS
  Identification of a novel homozygous mutation in the patient's PNPLA2 gene confirmed the suspected diagnosis of neutral lipid storage disease with myopathy.
  
  
  CONCLUSIONS
  Screening of the PNPLA2 gene should be considered for patients presenting with high levels of creatine kinase, progressive muscle weakness, and systemic lipid accumulation. The presence of Jordans anomaly can be a strong diagnostic clue.
authors.affiliation: Department ofNeurology, H. Houston Merritt Clinical Research Center, Columbia University Medical Center, 630W168th St,P&S 4-423, New York, NY 10032, USA. mh29@columbia.edu
authors.forename: Daniel B
authors.initials: DB
authors.lastname: Ash
authors.forename: Dimitra
authors.initials: D
authors.lastname: Papadimitriou
authors.forename: Arthur P
authors.initials: AP
authors.lastname: Hays
authors.forename: Salvatore
authors.initials: S
authors.lastname: Dimauro
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
mesh_terms: D000368:Aged; D006801:Humans; D008049:Lipase / Q000235:genetics*; D008052:Lipid Metabolism, Inborn Errors / Q000235:genetics* / Q000473:pathology; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology; D009154:Mutation; D010375:Pedigree; D000217:Acyltransferases
chemical_list: D008049:Lipase; C494794:PNPLA2 protein, human; D000217:Acyltransferases