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Danon disease

Thursday 22 April 2004

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