TY - JOUR T1 - Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study. JF - Journal of Neurology, Neurosurgery & Psychiatry JO - J Neurol Neurosurg Psychiatry SP - 1177 LP - 1186 DO - 10.1136/jnnp.38.12.1177 VL - 38 IS - 12 AU - H Isaacs AU - J J Heffron AU - M Badenhorst Y1 - 1975/12/01 UR - http://jnnp.bmj.com/content/38/12/1177.abstract N2 - 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. ER -