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Object To analyze the clinical characterization of Danon disease caused by the mutation of lysosome-associated membrane protein-2 (LAMP-2) gene.Methods The clinical presentations, serum biochemical indexes, electrocardiograms and echocardiographies data were retrospectively reviewed in 5 patients with genetically confirmed Danon disease.Mean follow-up period was (56±6) months.Results 5 patients including 2 men and 3 women in 2 unrelated families were indentified 2 novel mutations in the exon 3 (c.189-190TGdel) and 8 (c.1205Cdel) of the LAMP-2 gene, respectively.All patients had cardiomyopathy, 1 of 5 patients(20%) had skeletal myopathy, and none of patients had mental retardation.The two male patients presented the cardiac symptoms at the age of 9 and 10 years, respectively, and all female patients were asymptomatic.On biochemical analyses showed that serum creatine kinase and liver transaminase enzyme were increased in 2 patients (40%).Abnormal electrocardiograms were observed in all patients, and 2 patients (40%) had ventricular preexcitation.During the follow-up.1 male patient died of cardiac failure at the age of 18 years and three months, and the symptoms of the other male patient rapidly developed with the evolution of the hypertrophic into dilated cardiomyopathy.However, all female patients had still no symptoms, and repeatly echocardiography indicated the mild ventricular hypertrophy as previous result.Conclusion Danon disease mainly presents hypertrophic cardiomyopathy, and sometimes accompanied with skeletal myopathy.The disorder occurred early, progressed quickly and had a poor prognosis in male patients compared with female patients.The other clinical features include elevations of serum creatine kinase and liver transaminase enzyme, ventricular preexcitation on electrocardiogram, and ventricular hypertrophy on eehocardiography.