Psychiatric and Cognitive Characteristics of Individuals with Danon Disease (LAMP2 Gene Mutation)

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 pathophysiologi...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:Am J Med Genet A
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: 2017
Témata:
Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC5561494/
https://ncbi.nlm.nih.gov/pubmed/28627787
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.38320
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky