Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
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.
Lacoste-Collin
Laetitia
L
Department of Pathology, CHU Rangueil, 31403 4, Toulouse, France.
Garcia
Virginie
V
Uro-Coste
Emmanuelle
E
Arné-Bes
Marie-Christine
MC
Durand
Dominique
D
Levade
Thierry
T
Delisle
Marie-Bernadette
MB
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*
D015703:Antigens, CD; D051907:Lysosomal Membrane Proteins; D008562:Membrane Glycoproteins; D003402:Creatine Kinase