LAMP-2 deficiency (Danon disease).
Di Mauro
S
S
Department of Neurology, Columbia University Medical Center, New York, NY 10032, USA. sd12@columbia.edu
Tanji
K
K
Hirano
M
M
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
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins