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Danon disease is an extremely rare X-linked dominant disorder caused by a primary deficiency of LAMP2, characterized by hypertrophic cardiomyopathy, skeletal myopathy, and mental retardation.
This paper provides a comprehensive review of Danon disease, an extremely rare X-linked dominant disorder causing hypertrophic cardiomyopathy and autophagic vacuolar myopathy.
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Consider Danon disease in young males with hypertrophic cardiomyopathy plus myopathy; review extends differential diagnosis but leaves open prospective validation.
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.
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Zhao et al. (2007) conducted a review in Danon disease. Danon disease was evaluated. Danon disease is an extremely rare X-linked dominant disorder caused by a primary deficiency of LAMP2, characterized by hypertrophic cardiomyopathy, skeletal myopathy, and mental retardation.
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