Article
Malignant cardiac phenotypic expression of Danon disease (LAMP2 cardiomyopathy).
International journal of cardiology - 15 Oct 2017
Samad Fatima, Jain Renuka, Jan M Fuad, Sulemanjee Nasir Z, Menaria Puneet, Kalvin Lindsey, Bush Michelle, Jahangir Arshad, Khandheria Bijoy K, Tajik A Jamil
Abstract excerpt
INTRODUCTION: Danon disease is an X-linked lysosomal condition that causes a deficiency of lysosome-associated membrane protein 2 (LAMP2) gene. It is characterized clinically by a triad of skeletal myopathy, cardiomyopathy, and intellectual disability. METHODS: We examined clinical, echocardiographic, and genetic data on 5 patients with Danon disease, highlighting their clinical course and outcomes. RESULTS: All...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
