Definition: 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.
Other names Glycogen Storage Cardiomyopathies; Disease, Antopol; Cardiomyopathy, Glycogen Storage; Cardiomyopathies, Glycogen Storage; X-Linked Vacuolar Cardiomyopathy and Myopathy; Vacuolar Cardiomyopathy and Myopathy, X-linked; Pseudoglycogenosis 2; Lysosomal Glycogen Storage Disease without Acid Ma; Glycogen Storage Disease Type 2B; Glycogen Storage Disease Limited to the Heart; Glycogen Storage Disease IIb; Glycogen Storage Cardiomyopathy; Danon Disease; Antopol Disease; Storage Cardiomyopathy, Glycogen; Pseudoglycogenosis 2s
