PMID: 58976Jun 14, 1976

The symptomatology, morphology and biochemistry of glycogenosis type II (Pompe) in the adult

Journal of Neurology
G K SchlenskaD Seiler


The mild, generalized myopathy (glycogenosis type II) of a 23-year-old male, previously thought to have progressive muscular dystrophy, was studied clinically, electro-myographically, biochemically and with light- and electron microscopes. However, the history and clinical aspects, as well as the registration of high frequency discharges in the electromyogram first made the diagnosis uncertain. This kind of spontaneous activity has been found in nearly all cases reported in the literature. Light microscopic and histochemical examinations show vacular degeneration and glycogen storage in muscle fibres. With the electron microscope we found free dispersed glycogen in the cytoplasm and membrane-bound glycogen, glycogen-filled lysosomes. Biochemical measurements of the muscle enzymes, involved in the glycogen breakdown, were normal except for acid alpha-1,4-glucosidase, which was deficient. The evidence of these findings in this abortive form of glycogenosis type II is discussed and compared with the few cases found in the literature.


Feb 1, 1968·The American Journal of Medicine·J C Garancis
Aug 1, 1970·Archives of Neurology·J M BordiukS Blumenthal
Oct 1, 1970·Archives of Neurology·M H Brooke, K K Kaiser
Feb 16, 1972·Biochemical and Biophysical Research Communications·B I Brown, D H Brown
Nov 1, 1972·European Journal of Clinical Investigation·J F KosterW C Hülsmann
Dec 27, 1973·Clinica Chimica Acta; International Journal of Clinical Chemistry·H GaljaardM F Niermeijer
Dec 15, 1969·Experientia·F ZacchelloC Baccichetti
Jan 1, 1972·Biochimie·F van HoofH G HERS
Sep 1, 1972·Acta paediatrica Scandinavica·P A Ockerman
Sep 1, 1972·Acta paediatrica Scandinavica·P J MoeH Vogt
Nov 9, 1972·The New England Journal of Medicine·C AngeliniJ L Titus
Jan 1, 1973·Neurology·A G EngelE H Lambert
Jan 1, 1974·Archiv für Psychiatrie und Nervenkrankheiten·H W KölmelD Seiler
Nov 1, 1972·Clinica Chimica Acta; International Journal of Clinical Chemistry·R Kelleter, D Seiler
Jan 25, 1973·The New England Journal of Medicine·M Holden
Jul 4, 1969·Deutsche medizinische Wochenschrift·D Platt
Feb 1, 1971·Journal of the Neurological Sciences·A A Eisen, G Karpati
Oct 1, 1971·The Biochemical Journal·T N Palmer
Jun 1, 1967·Neurology·J SmithA K Afifi
Jun 1, 1968·Archives of Neurology·K F SwaimanH S Sauls
Sep 1, 1968·Brain : a Journal of Neurology·P HudgsonJ N Walton
Jul 4, 1969·Deutsche medizinische Wochenschrift·D Platt, M Platt
Sep 1, 1969·Neurology·G R HoganE Gilbert
Dec 1, 1970·Journal of Neurology, Neurosurgery, and Psychiatry·A G Engel, M R Gomez
Feb 6, 1959·Annals of the New York Academy of Sciences·P A DI SANT'AGNESE
Jan 1, 1965·Journal of Neuropathology and Experimental Neurology·E L MANCALLR G BERRY


Sep 1, 2005·Journal of Neurology·Léon P F WinkelAns T van der Ploeg
Apr 15, 1982·The New England Journal of Medicine·M Francesconi, E Auff
Apr 12, 2001·International Journal of Experimental Pathology·B GuertlG Hoefler
Apr 9, 2016·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·Mark TarnopolskyAneal Khan
Jan 1, 1987·Journal of Veterinary Internal Medicine·G D Shelton, G H Cardinet

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