Article
Danon Disease: Understanding the Role of LAMP2 Variants in Cardiomyopathy and Multisystemic Involvement.
Arquivos brasileiros de cardiologia - 1 Jan 2026
Ribeiro Giovanna Napolitano Pereira, Lipari Layara Fernanda Vicente Pereira, Senra Paula Mendonça, Pires Lucas Vieira Lacerda, Mizuta Marjorie Hayashida, Olivetti Natália Quintella Sangiorgi, Aiello Vera Demarchi, Krieger José Eduardo
Abstract excerpt
Danon disease (DD) is a rare X-linked disorder caused by pathogenic or likely pathogenic variants in the lysosome-associated membrane protein 2 (LAMP2) gene. It primarily manifests as hypertrophic cardiomyopathy, myopathy, intellectual disability, and retinopathy, with males typically experiencing a more severe and early-onset phenotype. The pathophysiology of DD is linked to defective autophagy due to LAMP2...
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