title: Clinicopathological features of genetically confirmed Danon disease.
abstract: BACKGROUND
  Danon disease is due to primary deficiency of lysosome-associated membrane protein-2.
  
  
  OBJECTIVE
  To define the clinicopathologic features of Danon disease.
  
  
  METHODS
  The features of 20 affected men and 18 affected women in 13 families with genetically confirmed Danon disease were reviewed.
  
  
  RESULTS
  All patients had cardiomyopathy, 18 of 20 male patients (90%) and 6 of 18 female patients (33%) had skeletal myopathy, and 14 of 20 male patients (70%) and one of 18 female patients (6%) had mental retardation. Men were affected before age 20 years whereas most affected women developed cardiomyopathy in adulthood. Muscle histology revealed basophilic vacuoles that contain acid phosphatase-positive material within membranes that lack lysosome-associated membrane protein-2. Heart transplantation is the most effective treatment for the otherwise lethal cardiomyopathy.
  
  
  CONCLUSIONS
  Danon disease is an X-linked dominant multisystem disorder affecting predominantly cardiac and skeletal muscles.
authors.affiliation: Department of Ultrastructural Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Tokyo, Japan.
authors.forename: K
authors.initials: K
authors.lastname: Sugie
authors.forename: A
authors.initials: A
authors.lastname: Yamamoto
authors.forename: K
authors.initials: K
authors.lastname: Murayama
authors.forename: S J
authors.initials: SJ
authors.lastname: Oh
authors.forename: M
authors.initials: M
authors.lastname: Takahashi
authors.forename: M
authors.initials: M
authors.lastname: Mora
authors.forename: J E
authors.initials: JE
authors.lastname: Riggs
authors.forename: J
authors.initials: J
authors.lastname: Colomer
authors.forename: C
authors.initials: C
authors.lastname: Iturriaga
authors.forename: A
authors.initials: A
authors.lastname: Meloni
authors.forename: C
authors.initials: C
authors.lastname: Lamperti
authors.forename: S
authors.initials: S
authors.lastname: Saitoh
authors.forename: E
authors.initials: E
authors.lastname: Byrne
authors.forename: S
authors.initials: S
authors.lastname: DiMauro
authors.forename: I
authors.initials: I
authors.lastname: Nonaka
authors.forename: M
authors.initials: M
authors.lastname: Hirano
authors.forename: I
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000293:Adolescent; D000328:Adult; D015703:Antigens, CD / Q000235:genetics*; D009202:Cardiomyopathies / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D002648:Child; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000201:enzymology / Q000235:genetics / Q000473:pathology; D016464:Lysosomal Storage Diseases / Q000201:enzymology / Q000235:genetics* / Q000473:pathology; D051907:Lysosomal Membrane Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency* / Q000235:genetics*; D008875:Middle Aged; D018482:Muscle, Skeletal / Q000201:enzymology / Q000473:pathology; D009154:Mutation / Q000235:genetics; D010375:Pedigree
chemical_list: D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins