Is central core disease with structural core a fetal defect?
- 1 October 1984
- journal article
- research article
- Published by Springer Nature in Zeitschrift für Neurologie
- Vol. 231 (4) , 212-219
- https://doi.org/10.1007/bf00313941
Abstract
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.This publication has 25 references indexed in Scilit:
- CENTRAL CORE DISEASEBrain, 1979
- Central core disease in one of identical twins.Journal of Neurology, Neurosurgery & Psychiatry, 1978
- Myosin polymorphism in human skeletal musclesMuscle & Nerve, 1978
- Actomyosin changes in muscles with altered functionExperimental Neurology, 1976
- Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.Journal of Neurology, Neurosurgery & Psychiatry, 1975
- CENTRAL CORE DISEASE OR NOT?Brain, 1973
- Comparative studies on myofibrillar proteins in different types of skeletal muscle fibersExperimental Neurology, 1972
- Troponin activity of different types of muscle fibersExperimental Neurology, 1971
- FAMILIAL NON-PROGRESSIVE MYOPATHY WITH MUSCLE CRAMPS AFTER EXERCISEBrain, 1966
- A NEW CONGENITAL NON-PROGRESSIVE MYOPATHYBrain, 1956