Danon disease as a cause of autophagic vacuolar myopathy

Danon disease, an extremely rare X-linked dominant disorder, is characterized clinically by hypertrophic cardiomyopathy (HCM), skeletal myopathy, and variable degree of mental retardation with autophagic vacuoles in skeletal and cardiac muscle. Reportedly, Danon disease is caused by a primary deficiency of a major lysosomal membrane glycoprotein, LAMP2 (lysosome-associated membrane protein 2). Here we review the clinical features, molecular genetics, related animal model, and differential diagnosis of Danon disease.