title: Morphologic findings in biopsied skeletal muscle and cultured fibroblasts from a female patient with Danon's disease (lysosomal glycogen storage disease without acid maltase deficiency).
abstract: A family is reported in which three members were affected by cardiomyopathy. Two members died unexpectedly in their second decade. Only a 23-year-old male suffered from the triad of clinical manifestations (cardiomyopathy, mental retardation and vacuolar myopathy). Morphologic findings and biochemical studies of his biopsied skeletal muscle and cultured fibroblasts confirmed lysosomal glycogen storage disease with normal acid maltase that was first described by Danon et al. In this study we demonstrated early morphologic changes, storage of glycogen and abnormal membranous structures in disorganized myofibers in biopsied skeletal muscle from the elder sister, who only showed cardiomyopathy clinically. The aggregation of autophagosomes was prominent in cultured fibroblasts, with an increased glycogen content. The activity of acid alpha-glucosidase was higher than normal. This is a systemic storage disease with different expression in males and females.
authors.affiliation: Third Department of Internal Medicine, Kagoshima University, School of Medicine, Japan.
authors.forename: F
authors.initials: F
authors.lastname: Usuki
authors.forename: S
authors.initials: S
authors.lastname: Takenaga
authors.forename: I
authors.initials: I
authors.lastname: Higuchi
authors.forename: N
authors.initials: N
authors.lastname: Kashio
authors.forename: M
authors.initials: M
authors.lastname: Nakagawa
authors.forename: M
authors.initials: M
authors.lastname: Osame
mesh_terms: D000293:Adolescent; D000328:Adult; D002675:Child, Preschool; D016757:Death, Sudden, Cardiac / Q000209:etiology; D017809:Fatal Outcome; D005260:Female; D005347:Fibroblasts / Q000473:pathology*; D005087:Glucan 1,4-alpha-Glucosidase / Q000032:analysis; D006008:Glycogen Storage Disease / Q000145:classification / Q000150:complications / Q000235:genetics / Q000473:pathology*; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D007425:Intracellular Membranes / Q000648:ultrastructure; D037102:Lectins; D008297:Male; D009132:Muscles / Q000473:pathology*; D009206:Myocardium / Q000473:pathology; D010375:Pedigree; D037121:Plant Lectins; D014617:Vacuoles / Q000648:ultrastructure; D000520:alpha-Glucosidases / Q000032:analysis
chemical_list: D037102:Lectins; D037121:Plant Lectins; C036850:Ulex europaeus lectins; D000520:alpha-Glucosidases; D005087:Glucan 1,4-alpha-Glucosidase