title: LAMP-2 deficiency (Danon disease).
authors.affiliation: Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA. sd12@columbia.edu
authors.forename: S
authors.initials: S
authors.lastname: Di Mauro
authors.forename: K
authors.initials: K
authors.lastname: Tanji
authors.forename: M
authors.initials: M
authors.lastname: Hirano
mesh_terms: D005260:Female; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics / Q000473:pathology; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000172:deficiency* / Q000235:genetics; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology* / Q000648:ultrastructure; D010375:Pedigree
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins