Extension of the clinical spectrum of Danon disease

Neurology. 2008 Apr 15;70(16):1358-9. doi: 10.1212/01.wnl.0000309219.61785.b3.
No abstract available

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Adult
  • Aged
  • Female
  • Glycogen Storage Disease Type IIb / genetics*
  • Glycogen Storage Disease Type IIb / pathology*
  • Humans
  • Lysosomal Membrane Proteins / genetics
  • Lysosomal-Associated Membrane Protein 2
  • Male
  • Middle Aged
  • Mutation, Missense / genetics

Substances

  • LAMP2 protein, human
  • Lysosomal-Associated Membrane Protein 2
  • Lysosomal Membrane Proteins