A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy
Journal of Cardiovascular Ultrasound
;
: 28-30, 2009.
Artigo
em Inglês
| 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:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Cardiomiopatia Hipertrófica
/
Doença de Depósito de Glicogênio
/
Doença de Depósito de Glicogênio Tipo IIb
/
Alfa-Glucosidases
/
Lisossomos
/
Membranas
/
Deficiência Intelectual
/
Doenças Musculares
/
Cardiomiopatias
Limite:
Humanos
Idioma:
Inglês
Revista:
Journal of Cardiovascular Ultrasound
Ano de publicação:
2009
Tipo de documento:
Artigo
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