title: Dominantly inherited cardioskeletal myopathy with lysosomal glycogen storage and normal acid maltase levels.
abstract: A family is presented in which 7 members over 3 generations were affected by cardioskeletal myopathy. A vacuolar myopathy with excessive free and intralysosomal glycogen storage in skeletal and cardiac striated muscle was identified in biopsy studies. Post-mortem studies in several patients revealed changes of a congestive cardiomyopathy with myocardial fibrosis. Acid maltase, phosphorylase, debrancher and lysosomal enzyme screens, and glycolytic enzyme levels in skeletal muscle, were normal in 1 case. This is the third report of non-acid maltase deficient lysosomal glycogen storage disease and adds to previous reports with the presentation of detailed family studies, examined of ante- and post-mortem cardiac histology and reports of detailed glycolytic and lysosomal enzyme analysis. This syndrome is unusual among glycogenoses in having a dominant inheritance pattern.
mesh_terms: D000328:Adult; D009202:Cardiomyopathies / Q000150:complications / Q000201:enzymology / Q000235:genetics*; D002311:Cardiomyopathy, Dilated / Q000150:complications; D005087:Glucan 1,4-alpha-Glucosidase / Q000378:metabolism*; D005959:Glucosidases / Q000378:metabolism*; D006008:Glycogen Storage Disease / Q000201:enzymology; D006801:Humans; D008297:Male; D008661:Metabolism, Inborn Errors / Q000150:complications; D010375:Pedigree; D013577:Syndrome
chemical_list: D005959:Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase