Is Central Core Disease with Structural Core a Fetal Defect?
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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 2 C. 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.
References
1.
Dubowitz V, Roy S
. Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child. Brain. 1970; 93(1):133-46.
DOI: 10.1093/brain/93.1.133.
View
2.
SAMAHA F, Thies W
. Actomyosin changes in muscles with altered function. Exp Neurol. 1976; 51(2):310-15.
DOI: 10.1016/0014-4886(76)90256-9.
View
3.
Diebler M, Arsenio-Nunes M, Wehrle R, Rosenberg B
. [Histochemical, quantitative and ultrastructural maturation of human fetal muscle]. J Neurol Sci. 1977; 31(2):245-59.
DOI: 10.1016/0022-510x(77)90110-1.
View
4.
Patterson V, Hill T, Fletcher P, HERON J
. Central core disease: clinical and pathological evidence of progression within a family. Brain. 1979; 102(3):581-94.
DOI: 10.1093/brain/102.3.581.
View
5.
Gonatas N, Perez M, SHY G, Evangelista I
. CENTRAL "CORE" DISEASE OF SKELETAL MUSCLE. ULTRASTRUCTURAL AND CYTOCHEMICAL OBSERVATIONS IN TWO CASES. Am J Pathol. 1965; 47:503-24.
PMC: 1920446.
View