title: Morphologic and clinical aspects of Danon disease in a patient with a mutation c.137G > A in the LAMP-2 gene.
abstract: BACKGROUND
  Danon disease is caused by a primary deficiency of lysosome-associated membrane protein-2 (LAMP-2).
  
  
  METHODS
  Our study describes a 19-year-old man with isolated hypertrophic cardiomyopathy, in whom we performed DNA analysis and compared results of microscopic analysis of skeletal and cardiac muscles.
  
  
  RESULTS
  Sequencing of the LAMP-2 gene revealed a novel point mutation c.137G > A in exon 2, leading to premature stop codon. Ultrastructural analysis of cardiac and skeletal muscles revealed the presence of unusual autophagic vacuoles in both. Although some vacuoles in skeletal muscle reacted strongly with dystrophin, β-sarcoglycan, and laminin, those in cardiomyocytes showed no immunoreactivity.
  
  
  CONCLUSIONS
  Our immunohistochemical and ultrastructural findings reinforce the claim that in Danon disease the pathomechanism of chaperone-mediated autophagy in cardiomyocytes differs from that in skeletal muscle.
authors.affiliation: Neuromuscular Unit, Mossakowski Medical Research Center, Polish Academy of Sciences, Warsaw, Poland.
authors.forename: Anna
authors.initials: A
authors.lastname: Fidzianska
authors.forename: Agnieszka
authors.initials: A
authors.lastname: Madej-Pilarczyk
authors.forename: Ewa
authors.initials: E
authors.lastname: Walczak
authors.forename: Marek
authors.initials: M
authors.lastname: Kuch
mesh_terms: D002312:Cardiomyopathy, Hypertrophic / Q000235:genetics / Q000473:pathology*; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics / Q000473:pathology*; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2 / Q000235:genetics*; D008297:Male; D018482:Muscle, Skeletal / Q000648:ultrastructure*; D009154:Mutation; D009206:Myocardium / Q000648:ultrastructure*; D055815:Young Adult
chemical_list: D052119:Lysosomal-Associated Membrane Protein 2