Article
Electron microscopic findings in skin biopsies from patients with Danon disease.
Ultrastructural pathology - 1 Dec 2010
Alroy Joseph, Pfannl Rolf, Slavov Dobromir, Taylor Matthew R G
Abstract excerpt
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...
Topics
- Adult
- Biopsy
- Cells, Cultured
- Child
- DNA Mutational Analysis
- Female
- Fibroblasts
- Glycogen Storage Disease Type IIb
- Humans
- Lysosomal-Associated Membrane Protein 2
- Lysosomal Membrane Proteins
- Male
- Microscopy, Electron, Transmission
- Mutation
- Pedigree
- Skin