Danon disease
lysosomal glycogen storage disease with normal acid maltase
Synopsis
cardiomyopathy
myopathy
variable mental retardation
Etiology
mutations in the coding sequence of the lysosomal-associated membrane protein 2 (LAMP-2)
References
Saftig P, Tanaka Y, Lullmann-Rauch R, von Figura K. Disease model: LAMP-2 enlightens Danon disease. Trends Mol Med. 2001 Jan;7(1):37-9. PMID: #11427988#
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