A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy
Journal of Cardiovascular Ultrasound
;
: 28-30, 2009.
Artículo
en Inglés
| WPRIM
| ID: wpr-18352
ABSTRACT
Danon disease is characterized clinically by the triad of cardiomyopathy, myopathy and mental retardation. It was originally reported as a lysosomal glycogen storage disease with normal acid maltase by Danon. Danon disease results from mutations in lysosome associated membrane protein-2 (LAMP-2) gene. The LAMP-2 gene is located on Xq24-25. We report a case of suspected Danon disease in patient who had hypertrophic cardiomyopathy and mental retardation along with abnormal findings in electromyography.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Cardiomiopatía Hipertrófica
/
Enfermedad del Almacenamiento de Glucógeno
/
Enfermedad por Depósito de Glucógeno de Tipo IIb
/
Alfa-Glucosidasas
/
Lisosomas
/
Membranas
/
Discapacidad Intelectual
/
Enfermedades Musculares
/
Cardiomiopatías
Límite:
Humanos
Idioma:
Inglés
Revista:
Journal of Cardiovascular Ultrasound
Año:
2009
Tipo del documento:
Artículo
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