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Ultrastructural aspects of muscle and nerve in Werdnig-Hoffmann disease

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The authors describe in biopsies from 6 cases of Werdnig-Hoffmann disease, including 2 of the more benign type, the ultrastructural typical aspects of denervation. They compare their findings with those of other workers. The striking points are the great variation in the diameter of the muscle fibres and the myofibrils, the disorganisation of the myofibrils, the sarcomeres and the filaments, with persistance of the relations between thick and thin filaments at various levels, the modifications of the Z-band and the triads in chains. The folds and the basement membrane are examined. Centrioles are present in a muscle fibre and in a satellite. Glycogen is very abundant. The nerves seem normal but some Schwann cells contain π granules which are not observed usually at the age of the patient. The end plates and a muscle spindle are normal.

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Supported by grants from the Fonds de la Recherch Scientifique Médicale.

Dr. H. B. Szliwowski is also member of the Research Unit on Neuromuscular Diseases (Prof. C. Coërs)

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Szliwowski, H.B., Drochmans, P. Ultrastructural aspects of muscle and nerve in Werdnig-Hoffmann disease. Acta Neuropathol 31, 281–296 (1975).

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Key words

  • Werdnig-Hoffmann Disease
  • Ultrastructure
  • Denervation
  • Muscle
  • Myofibrils
  • Centrioles