Danon's disease (X-linked vacuolar cardiomyopathy and myopathy): a case with a novel Lamp-2 gene mutation.
Neuromuscul Disord
; 12(9): 882-5, 2002 Nov.
Article
em En
| MEDLINE
| ID: mdl-12398843
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.
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Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Antígenos CD
/
Doenças por Armazenamento dos Lisossomos
/
Cromossomos Humanos X
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Doenças Musculares
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Cardiomiopatias
Limite:
Adult
/
Humans
/
Male
País/Região como assunto:
Europa
Idioma:
En
Ano de publicação:
2002
Tipo de documento:
Article