Asymptomatic young man with Danon disease.

Abstract excerpt

Danon disease is a rare, codominant X-linked genetic disorder characterized by the triad of left ventricular hypertrophy, mental retardation, and peripheral myopathy. This disease is caused by mutations in the gene that encodes lysosomal associated membrane protein 2 (LAMP2), a deficiency of which results in the accumulation of autophagic granular débris within the vacuoles of muscle cells. This is a report of an...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Asymptomatic Diseases
• Share to Death, Sudden, Cardiac
• Share to Defibrillators, Implantable