Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy
BJ Maron, WC Roberts, M Arad, TS Haas, P Spirito… - Jama, 2009 - jamanetwork.com
Context Mutations in X-linked lysosome-associated membrane protein gene (LAMP2;
Danon disease) produce a cardiomyopathy in young patients that clinically mimics severe
hypertrophic cardiomyopathy (HCM) due to sarcomere protein mutations. However, the
natural history and phenotypic expression of this newly recognized disease is incompletely
resolved and its identification may have important clinical implications. Objectives To
determine the clinical consequences, outcome, and phenotypic expression of LAMP2 …
Danon disease) produce a cardiomyopathy in young patients that clinically mimics severe
hypertrophic cardiomyopathy (HCM) due to sarcomere protein mutations. However, the
natural history and phenotypic expression of this newly recognized disease is incompletely
resolved and its identification may have important clinical implications. Objectives To
determine the clinical consequences, outcome, and phenotypic expression of LAMP2 …