Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.
Two patients suffering from central core disease are presented. The condition is associated with musculoskeletal abnormalities which have been traced back over five generations. In addition to the typical histochemical findings, electronmicroscopic study has revealed the presence of both structured and non-structured cores in adjacent areas. The calcium uptake by the sarcoplasmic reticulum was reduced to one-third of normal. Phosphorylase activity was normal in the one case and reduced to 63% in the other. Actomyosin Mg2+-activated ATPase activity was decreased, as was the Ca2+-dependent ATPase of the sarcoplasmic reticulum.
D000251:Adenosine Triphosphatases / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D002118:Calcium / Q000378:metabolism; D006651:Histocytochemistry; D006801:Humans; D008274:Magnesium; D008297:Male; D009132:Muscles / Q000201:enzymology / Q000648:ultrastructure; D009135:Muscular Diseases / Q000151:congenital* / Q000201:enzymology / Q000473:pathology; D006005:Phosphorylases / Q000378:metabolism; D012519:Sarcoplasmic Reticulum / Q000378:metabolism; D013385:Succinate Dehydrogenase / Q000378:metabolism; D013577:Syndrome
D013385:Succinate Dehydrogenase; D006005:Phosphorylases; D000251:Adenosine Triphosphatases; D008274:Magnesium; D002118:Calcium