Article
Clinical outcome and phenotypic expression in LAMP2 cardiomyopathy.
JAMA - 25 Mar 2009
Maron Barry J, Roberts William C, Arad Michael, Haas Tammy S, Spirito Paolo, Wright Gregory B, Almquist Adrian K, Baffa Jeanne M, Saul J Philip, Ho Carolyn Y, Seidman Jonathan, Seidman Christine E
Abstract excerpt
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....
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