Is central core disease with structural core a fetal defect?

Autor: Fidziańskia, A., Niebrój-Dobosz, I., Badurska, B., Ryniewicz, B.
Zdroj: Journal of Neurology; 1984, Vol. 231 Issue 4, p212-219, 8p
Abstrakt: Morphological and biochemical studies were performed in three cases of congenital non-progressive myopathy in two generations of the same family. In the muscle biopsy nearly all the fibres were uniform in enzyme activity and belonged to type 2C. Typical structural central cores were observed in 90% of the muscle fibres. Some ultrastructural characteristics of the core area, as well as disturbances of the myofibrillar proteins pattern, seen in the examined cases suggest that core formation may be a result of protein synthesis disturbances in an early stage of myogenesis. [ABSTRACT FROM AUTHOR]
Databáze: Complementary Index