title: Is central core disease with structural core a fetal defect?
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.
mesh_terms: D000328:Adult; D001706:Biopsy; D002648:Child; D004576:Electromyography; D005260:Female; D006651:Histocytochemistry; D006801:Humans; D008854:Microscopy, Electron; D009132:Muscles / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital* / Q000196:embryology / Q000235:genetics / Q000473:pathology; D009210:Myofibrils / Q000648:ultrastructure; D010375:Pedigree