title: 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: Baylor College of Medicine, Department of Pediatrics, Houston, TX 77030, USA.
authors: Zhao
authors: Z
authors: Yang
authors: Matteo
authors: M
authors: Vatta
mesh_terms: D000818:Animals; D001343:Autophagy / Q000502:physiology; D009202:Cardiomyopathies / Q000209:etiology; D004195:Disease Models, Animal; D018740:Genetic Heterogeneity; D052120:Glycogen Storage Disease Type IIb / Q000150:complications* / Q000175:diagnosis / Q000235:genetics; D006801:Humans; D040582:Inheritance Patterns; D008607:Intellectual Disability / Q000209:etiology; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins / Q000235:genetics; D008247:Lysosomes / Q000502:physiology; D009135:Muscular Diseases / Q000209:etiology* / Q000503:physiopathology*
chemical_list: C497811:LAMP2 protein, human; D052119:Lysosomal-Associated Membrane Protein 2; D051907:Lysosomal Membrane Proteins