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Ultrastructure of heart muscle in generalized gangliosidosis GM1

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Abstract

Generalized gangliosidosis GM1 is characterized by the almost complete deficiency of the enzyme β-galactosidase, therefore the cleavage of the terminal galactose from the gangliosid GM1 is impaired.

Typical alterations could be observed in generalized gangliosidosis GM1 in heart muscle cells as well as in capillary endothelium, and nerve fibers. Large vacuoles, containing granular or flocculent material and inclusion bodies, were obvious.

Zusammenfassung

Die generalisierte Gangliosidose GM1 ist durch einen erheblichen bzw. vollständigen Mangel des Enzyms β-Galactosidase gekennzeichnet. Die Spaltung der endständigen Galactosemoleküle vom Gangliosid GM1 ist deshalb blockiert. Es werden die Veränderungen der Herzmuskelzellen, der Capillarendothelien und der vegetativen Nervenfasern beschrieben. Große Vacuolen mit einem feinflockigen Inhalt und Einschlußkörper stellen die wesentlichen Befunde dar.

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Abbreviations

A:

axon

BW:

interstitial cell

D:

dense body

E:

endothelium

EDI:

electron-dense inclusion body

IB:

inclusion body

G:

granule

L:

lumen

M:

heart muscle cell

Mi:

mitochondria

mf:

myofiber

Va:

vacuole

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Authors and Affiliations

  1. Institut für Medizinische Physik der Westfälischen Wilhelms-Universität Münster, Germany

    K. -P. Backwinkel, D. B. von Bassewitz, L. Diekmann & H. Themann

  2. Universitäts-Kinderklinik der Westfälischen Wilhelms-Universität Münster, Germany

    K. -P. Backwinkel, D. B. von Bassewitz, L. Diekmann & H. Themann

Authors
  1. K. -P. Backwinkel
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  2. D. B. von Bassewitz
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  3. L. Diekmann
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  4. H. Themann
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This study was supported by a grant from the Deutsche Forschungsgemeinschaft.

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Backwinkel, K.P., von Bassewitz, D.B., Diekmann, L. et al. Ultrastructure of heart muscle in generalized gangliosidosis GM1 . Z. Kinder-Heilk. 110, 104–114 (1971). https://doi.org/10.1007/BF00442285

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  • DOI: https://doi.org/10.1007/BF00442285

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