A Case of Suspected Danon Disease Presenting as a Hypertrophic Cardiomyopathy
Journal of Cardiovascular Ultrasound
;
: 28-30, 2009.
Article
in English
| 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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Cardiomyopathy, Hypertrophic
/
Glycogen Storage Disease
/
Glycogen Storage Disease Type IIb
/
Alpha-Glucosidases
/
Lysosomes
/
Membranes
/
Intellectual Disability
/
Muscular Diseases
/
Cardiomyopathies
Limits:
Humans
Language:
English
Journal:
Journal of Cardiovascular Ultrasound
Year:
2009
Type:
Article
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