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, Pseudoglycogenosis IIs, X Linked Vacuolar Cardiomyopathy and Myopathy, Glycogen Storage Cardiomyopathies, Glycogen Storage Cardiomyopathy, Disease, Antopol, Glycogen Storage Disease Type 2B, Antopol Disease, Glycogen Storage Disease Limited to the Heart, X-Linked Vacuolar Cardiomyopathy and Myopathy, Danon Disease, Vacuolar Cardiomyopathy and Myopathy, X linked, Vacuolar Cardiomyopathy and Myopathy, X-linked, Cardiomyopathies, Glycogen Storage, Pseudoglycogenosis 2s, Pseudoglycogenosis II, Glycogen Storage Disease IIb, Lysosomal Glycogen Storage Disease with Normal Acid Maltase, Cardiomyopathy, Glycogen Storage, Lysosomal Glycogen Storage Disease without Acid Maltase Deficiency
Instance information
2006
D052120