Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.
Open Access
- 1 December 1975
- journal article
- research article
- Published by BMJ in Journal of Neurology, Neurosurgery & Psychiatry
- Vol. 38 (12), 1177-1186
- https://doi.org/10.1136/jnnp.38.12.1177
Abstract
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.Keywords
This publication has 27 references indexed in Scilit:
- The syndrome of `continuous muscle-fibre activity' cured: further studiesJournal of Neurology, Neurosurgery & Psychiatry, 1974
- The pattern of terminal motor innervation in healthy young adultsJournal of the Neurological Sciences, 1973
- Central-core disease and malignant hyperpyrexia.BMJ, 1973
- Observations on central core diseaseJournal of the Neurological Sciences, 1971
- A New Concept of Childhood Nemaline MyopathyArchives of Neurology, 1971
- CENTRAL CORE DISEASE OF MUSCLE: CLINICAL, HISTOCHEMICAL AND ELECTRON MICROSCOPIC STUDIES OF AN AFFECTED MOTHER AND CHILDBrain, 1970
- Central core disease of muscle with focal wasting.Journal of Neurology, Neurosurgery & Psychiatry, 1965
- CENTRAL CORE DISEASE—AN INVESTIGATION OF A RARE MUSCLE CELL ABNORMALITYBrain, 1961
- OXIDATIVE ENZYMES AND PHOSPHORYLASE IN CENTRAL-CORE DISEASE OF MUSCLEThe Lancet, 1960
- A NEW CONGENITAL NON-PROGRESSIVE MYOPATHYBrain, 1956