Danon disease as a cause of autophagic vacuolar myopathy.

Abstract

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.

• Authors: Zhao Yang, Matteo Vatta
• Journal: Congenital heart disease (Congenit Heart Dis) 2007 Nov-Dec Vol. 2 Issue 6 Pg. 404-9 ISSN: 1747-0803 [Electronic] United States
• PMID: 18377432 (Publication Type: Journal Article, Review)

Chemical References

• LAMP2 protein, human
• Lysosomal-Associated Membrane Protein 2
• Lysosome-Associated Membrane Glycoproteins

Topics

• Animals
• Autophagy (physiology)
• Cardiomyopathies (etiology)
• Disease Models, Animal
• Genetic Heterogeneity
• Glycogen Storage Disease Type IIb (complications, diagnosis, genetics)
• Humans
• Inheritance Patterns
• Intellectual Disability (etiology)
• Lysosomal-Associated Membrane Protein 2
• Lysosome-Associated Membrane Glycoproteins (genetics)
• Lysosomes (physiology)
• Muscular Diseases (etiology, physiopathology)