Danon disease, an X-linked dominant vacuolar cardiomyopathy and skeletal myopathy, is caused by primary deficiency of lysosome-associated membrane protein-2 (LAMP-2). However, the clinicopathological features and management of Danon disease have not been well established. Here, we sent questionnaires on Danon disease to 2,617 hospitals in Japan that have departments of neurology, cardiology, or pediatrics. We reviewed clinical histories, muscle specimens, and genetic analyses of the LAMP-2 gene.

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