title: Characterization of Danon disease in a male patient and his affected mother.
abstract: Danon disease, primary lysosome-associated membrane protein-2 (LAMP-2) deficiency, is histologically characterized by unusual vacuoles bound by membranes with sarcolemmal features in skeletal muscle. We studied skeletal muscle specimens from a male patient with genetically confirmed Danon disease who had two muscle biopsies, at age 20 months and 16 years, and from his mother with cardiomyopathy but without clinically apparent skeletal myopathy. In the patient, the number of vacuoles increased over the 14-year interval between biopsies, suggesting that the number of vacuolated fibers increases with age, and correlates with the development of muscle symptoms. In contrast, in the muscle biopsy from the mother there were no vacuoles even though she had decreased LAMP-2.
authors.affiliation: Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), 4-1-1 Ogawahigashi-cho, Kodaira, 187-8502, Tokyo, Japan.
authors.forename: Kazuma
authors.initials: K
authors.lastname: Sugie
authors.forename: Tateo
authors.initials: T
authors.lastname: Koori
authors.forename: Ayaka
authors.initials: A
authors.lastname: Yamamoto
authors.forename: Megumu
authors.initials: M
authors.lastname: Ogawa
authors.forename: Michio
authors.initials: M
authors.lastname: Hirano
authors.forename: Kiyoharu
authors.initials: K
authors.lastname: Inoue
authors.forename: Ikuya
authors.initials: I
authors.lastname: Nonaka
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
mesh_terms: D000293:Adolescent; D015703:Antigens, CD / Q000378:metabolism*; D015153:Blotting, Western; D005260:Female; D006801:Humans; D007150:Immunohistochemistry; D051907:Lysosomal Membrane Proteins; D008297:Male; D009135:Muscular Diseases / Q000235:genetics / Q000378:metabolism / Q000473:pathology / Q000503:physiopathology
chemical_list: D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins