Background: Danon disease (DD) is a rare X-linked dominant lysosomal glycogen storage disease
caused by LAMP2 (lysosomal-associated membrane protein 2) deficiency. The disease
phenotype is characterized by severe cardiomyopathy and skeletal muscle weakness.
It is often associated with mental retardation. Dysregulation of autophagy has been
described in these patients but the precise mechanism causing the disease is still
not fully understood. We generated patient-specific induced pluripotent stem cell-derived
cardiomyocytes (iPS-CMs) with the aim of using this in vitro model to elucidate the
DD physiopathology.
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