Electron microscopic findings in skin biopsies from patients with Danon disease.
Danon disease is a rare lysosomal disorder. It is due to deficiency of lysosomal-associated protein-2. In human LAMP-2 gene is located at chromosome region Xq24. Danon disease is characterized by hypertrophic cardiomyopathy, skeletal myopathy, mental retardation and retinopathy. To date, the morphological characterization of Danon disease has been limited to endomyocardial and skeletal muscle biopsies. In the current study we demonstrated that electron microscopy of a more accessible tissue, skin biopsies, is a useful method in the diagnosis of Danon disease.
Department of Pathology, Tufts University, Cummings Veterinary School, Boston, Massachusetts, USA. joseph.alroy@tufts.edu
Joseph
J
Alroy
Rolf
R
Pfannl
Dobromir
D
Slavov
Matthew R G
MR
Taylor
D000328:Adult; D001706:Biopsy; D002478:Cells, Cultured; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D052120:Glycogen Storage Disease Type IIb / Q000235:genetics / Q000378:metabolism / Q000473:pathology*; D006801:Humans; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D008297:Male; D046529:Microscopy, Electron, Transmission / Q000379:methods*; D009154:Mutation; D010375:Pedigree; D012867:Skin / Q000378:metabolism / Q000648:ultrastructure*
C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins