An X-linked dominant multisystem disorder resulting in cardiomyopathy, myopathy and INTELLECTUAL DISABILITY. It is caused by mutation in the gene encoding LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 2.
Synonyms: Glycogen Storage Disease Type IIb, Pseudoglycogenosis 2, X Linked Vacuolar Cardiomyopathy and Myopathy, Pseudoglycogenosis IIs, Glycogen Storage Cardiomyopathies, Glycogen Storage Cardiomyopathy, Disease, Antopol, Glycogen Storage Disease Type 2B, Antopol Disease, Glycogen Storage Disease Limited to the Heart, Danon Disease, X-Linked Vacuolar Cardiomyopathy and Myopathy, Vacuolar Cardiomyopathy and Myopathy, X linked, Vacuolar Cardiomyopathy and Myopathy, X-linked, Cardiomyopathies, Glycogen Storage, Pseudoglycogenosis 2s, Pseudoglycogenosis II, Glycogen Storage Disease IIb, Cardiomyopathy, Glycogen Storage, Lysosomal Glycogen Storage Disease with Normal Acid Maltase, Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency
Instance information
2006
D052120