Abstract
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.
MeSH terms
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Adult
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Biopsy
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Cells, Cultured
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Child
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DNA Mutational Analysis
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Female
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Fibroblasts / metabolism
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Fibroblasts / pathology
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Glycogen Storage Disease Type IIb / genetics
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Glycogen Storage Disease Type IIb / metabolism
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Glycogen Storage Disease Type IIb / pathology*
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Humans
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Lysosomal Membrane Proteins / deficiency
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Lysosomal Membrane Proteins / genetics
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Lysosomal Membrane Proteins / metabolism
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Lysosomal-Associated Membrane Protein 2
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Male
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Microscopy, Electron, Transmission / methods*
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Mutation
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Pedigree
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Skin / metabolism
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Skin / ultrastructure*
Substances
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LAMP2 protein, human
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Lysosomal-Associated Membrane Protein 2
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Lysosomal Membrane Proteins