title: Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
abstract: Herein, we report a new case of Danon's disease in a 41-year-old Frenchman. This patient displays the typical clinical triad, with cardiomyopathy, mental retardation and myopathy, and a vacuolar myopathy without acid alpha-glucosidase deficiency. He has also developed a diffuse chorio-capillary ocular atrophy, and represents the second case of successful heart transplantation in this lysosomal disease. Interestingly, analysis of LAMP-2 protein expression in cultured fibroblasts revealed a primary deficiency of this lysosomal membrane protein. This defect resulted from a yet undescribed deletion in exon 7 of lamp-2 gene.
authors.affiliation: Department of Pathology, CHU Rangueil, 31403 4, Toulouse, France.
authors.forename: Laetitia
authors.initials: L
authors.lastname: Lacoste-Collin
authors.forename: Virginie
authors.initials: V
authors.lastname: Garcia
authors.forename: Emmanuelle
authors.initials: E
authors.lastname: Uro-Coste
authors.forename: Marie-Christine
authors.initials: MC
authors.lastname: Arné-Bes
authors.forename: Dominique
authors.initials: D
authors.lastname: Durand
authors.forename: Thierry
authors.initials: T
authors.lastname: Levade
authors.forename: Marie-Bernadette
authors.initials: MB
authors.lastname: Delisle
mesh_terms: D000328:Adult; D015703:Antigens, CD / Q000096:biosynthesis / Q000235:genetics*; D001483:Base Sequence; D001706:Biopsy; D015153:Blotting, Western; D009202:Cardiomyopathies / Q000235:genetics*; D041321:Chromosomes, Human, X; D003402:Creatine Kinase / Q000097:blood; D004252:DNA Mutational Analysis; D004576:Electromyography; D005091:Exons; D005347:Fibroblasts / Q000378:metabolism; D005602:France / Q000208:ethnology; D006801:Humans; D016464:Lysosomal Storage Diseases / Q000235:genetics*; D051907:Lysosomal Membrane Proteins; D008297:Male; D008562:Membrane Glycoproteins / Q000172:deficiency / Q000235:genetics; D009135:Muscular Diseases / Q000235:genetics*
chemical_list: D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins; D003402:Creatine Kinase