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Start Over Author "Popoiu, Anca" Journal canadian journal of cardiology
2 results on '"Popoiu, Anca"'

2. Identification of Two Novel LAMP2Gene Mutations in Danon Disease

Author

Csányi, Beáta, Popoiu, Anca, Hategan, Lidia, Hegedűs, Zoltán, Nagy, Viktória, Rácz, Katalin, Hőgye, Márta, Sághy, László, Iványi, Béla, Csanády, Miklós, Forster, Tamás, and Sepp, Róbert

Abstract

Danon disease is a rare X-linked inherited disorder characterized by massive left ventricular hypertrophy, skeletal muscle dystrophy, and mental retardation. The disease is caused by mutations in the LAMP2gene encoding for lysosome-associated membrane protein-2.

Published
2016
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