Danon disease is an X-linked dominant disease that affects males earlier than females. Among boys, the key features are diseased heart muscle (cardiomyopathy), skeletal muscle weakness, and intellectual disability. In most males the disease is progressive and transplantation by the age of 20 years is common. Females are also affected, although usually with a later age of onset. However, some females will need a heart transplant in the 2nd decade of life, similar to males. Other features include heart arrhythmias and vision problems due to retinal disease.
LAMP2