Article
Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation).
American journal of medical genetics. Part A - 1 Sept 2017
Yardeni Maya, Weisman Omri, Mandel Hanna, Weinberger Ronnie, Quarta Giovanni, Salazar-Mendiguchía Joel, Garcia-Pavia Pablo, Lobato-Rodríguez Maria José, Simon Lourdes Fajardo, Dov Freimark, Arad Michael, Gothelf Doron
Abstract excerpt
Danon disease (DD) is a rare X-linked disorder caused by loss-of-function mutations in the LAMP2 gene, which encodes lysosome-associated membrane protein. It is characterized by the triad of hypertrophic cardiomyopathy, myopathy, and intellectual disability. Whereas the molecular and pathophysiological mechanisms underlying this disorder have been previously reported and continue to be explored, the cognitive...
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