[Polyglycosan body myopathy].
We report two patients with polyglycosan body disease manifesting in adulthood. Clinical, electrophysiological, and histopathological characteristics of their disorders are summarized, and diagnostic classification is discussed.
Jeub
M
M
Neurologische Klinik und Poliklinik, Rheinische Friedrich-Wilhelms-Universität, Sigmund-Freud-Strasse 25, 53105 Bonn, Germany. monika.jeub@ukb.uni-bonn.de
Kappes-Horn
K
K
Kornblum
C
C
Fischer
D
D
D015061:1,4-alpha-Glucan Branching Enzyme / Q000172:deficiency* / Q000235:genetics; D000368:Aged; D001706:Biopsy; D003937:Diagnosis, Differential; D005260:Female; D006004:Glycogen Debranching Enzyme System / Q000172:deficiency* / Q000235:genetics; D006010:Glycogen Storage Disease Type III / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006011:Glycogen Storage Disease Type IV / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D006801:Humans; D008297:Male; D018482:Muscle, Skeletal / Q000473:pathology; D018979:Myositis, Inclusion Body / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D014617:Vacuoles / Q000473:pathology
D006004:Glycogen Debranching Enzyme System; D015061:1,4-alpha-Glucan Branching Enzyme