{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,17]],"date-time":"2026-04-17T23:18:40Z","timestamp":1776467920395,"version":"3.51.2"},"reference-count":29,"publisher":"BMJ","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[1975,12,1]]},"DOI":"10.1136\/jnnp.38.12.1177","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:02:42Z","timestamp":1226350962000},"page":"1177-1186","source":"Crossref","is-referenced-by-count":46,"title":["Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study."],"prefix":"10.1136","volume":"38","author":[{"given":"H","family":"Isaacs","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J J","family":"Heffron","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M","family":"Badenhorst","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1212\/WNL.15.4.371","article-title":"Congenital non-progressive myopathy. Central core disease and nemaline myopathy in one family","volume":"15","author":"Afifi, A.K.; Smith, J.W.; Zellweger, H.","year":"1965","unstructured":"Afifi, A. K., Smith, J. W., and Zellweger, H. (1965). Congenital non-progressive myopathy. Central core disease and nemaline myopathy in one family. Neurology (Minneap.), 15, 371-381.","journal-title":"Neurology (Minneap.)"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"369","DOI":"10.1212\/WNL.21.4.369","article-title":"Central core disease with congenital hip dislocation. Study of two families","volume":"21","author":"Armstrong, R.M.; Koenisgberger, R.; Mellinger, J.; Lovelace, R.E.","year":"1971","unstructured":"Armstrong, R. M., Koenisgberger, R., Mellinger, J., and Lovelace, R. E. (1971). Central core disease with congenital hip dislocation. Study of two families. Neurology (Minneap.), 21, 369-376.","journal-title":"Neurology (Minneap.)"},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1016\/0022-510X(71)90218-8","article-title":"Observations on central core disease","volume":"14","author":"Bethlem, J.; van Wijngaarden, G.K.; Meijer, A.E.P.; Fleury, P.","year":"1971","unstructured":"Bethlem, J., van Wijngaarden, G. K., Meijer, A. E. P., and Fleury, P. (1971). Observations on central core disease. Journal of the Neurological Sciences, 14, 293-299.","journal-title":"Journal of the Neurological Sciences"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"316","DOI":"10.1007\/BF03004695","article-title":"Malignant hyperthermia: aetiology unknown","volume":"17","author":"Britt, B.A.; W, Kalow","year":"1970","unstructured":"Britt, B. A., and Kalow. W. (1970). Malignant hyperthermia: aetiology unknown. Canadian Anaesthetists Society Journal, 17, 316-339.","journal-title":"Canadian Anaesthetists Society Journal"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1016\/0022-510X(73)90098-1","article-title":"The pattern of terminal motor innervation in healthy young adults","volume":"19","author":"Coers, C.; Reske-Nielson, E.; Harmsen, A.","year":"1973","unstructured":"Coers, C., Reske-Nielson, E., and Harmsen, A. (1973). The pattern of terminal motor innervation in healthy young adults. Journal of Neurological Sciences, 19, 351-356.","journal-title":"Journal of Neurological Sciences"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"272","DOI":"10.1136\/bmj.1.5848.272","article-title":"Central core disease and malignant hyperpyrexia","volume":"1","author":"Denborough, M.A.; Dennett, X.; Anderson, R.M.D.","year":"1973","unstructured":"Denborough, M. A., Dennett, X., and Anderson, R. M. D. (1973). Central core disease and malignant hyperpyrexia. British Medical Journal, 1, 272-274.","journal-title":"British Medical Journal"},{"key":"ref_7","article-title":"Personal communication","author":"Dubowitz, V.","year":"1974","unstructured":"Dubowitz, V. (1974). Personal communication."},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"23","DOI":"10.1016\/S0140-6736(60)92665-9","article-title":"Oxidative enzymes and phosphorylase in central core disease of muscle","volume":"2","author":"Dubowitz, V.; Pearse, A.G.E.","year":"1960","unstructured":"Dubowitz, V., and Pearse, A. G. E. (1960). Oxidative enzymes and phosphorylase in central core disease of muscle. Lancet, 2, 23-24.","journal-title":"Lancet"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"432","DOI":"10.1136\/jnnp.28.5.432","article-title":"Central core disease of muscle with focal wasting","volume":"28","author":"Dubowitz, V.; Platts, M.","year":"1965","unstructured":"Dubowitz, V., and Platts, M. (1965). Central core disease of muscle with focal wasting. Journal of Neurology, Neurosurgery, and Psychiatry, 28, 432-437.","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1093\/brain\/93.1.133","article-title":"Central core disease of muscle. Clinical, histochemical and electron microscopic studies of an affected mother and child","volume":"93","author":"Dubowitz, V.; Roy, S.","year":"1970","unstructured":"Dubowitz, V., and Roy, S. (1970). Central core disease of muscle. Clinical, histochemical and electron microscopic studies of an affected mother and child. Brain, 93, 133-146.","journal-title":"Brain"},{"key":"ref_11","first-page":"559","article-title":"Screening for malignant hyperpyrexia","volume":"5","author":"Ellis, F.R.; Keaney, N.P.; Harriman, D.G.F.; Sumner, D.W.; Kyei-Mensah, E.; Tyrell, J.H.; Hargreaves, J.B.; Parikh, J.H.; Mulrooney, P.L.","year":"1972","unstructured":"Ellis, F. R., Keaney, N. P., Harriman, D. G. F., Sumner, D. W., Kyei-Mensah, E., Tyrell, J. H., Hargreaves, J. B., Parikh, J. H., and Mulrooney, P. L. (1972). Screening for malignant hyperpyrexia. British Medical Journal, 5, 559-562.","journal-title":"British Medical Journal"},{"key":"ref_12","first-page":"160185","article-title":"Histochemical studies of denervated or tenotomized cat muscle: Illustrating difficulties in relating experimental animal conditions to human neuro-muscular diseases","volume":"138","author":"Engel, W.K.; Brooke, M.H.; Nelson, Ph","year":"1966","unstructured":"Engel, W. K., Brooke, M. H., and Nelson, Ph. G (1966). Histochemical studies of denervated or tenotomized cat muscle: Illustrating difficulties in relating experimental animal conditions to human neuro-muscular diseases. Annals of the New York Academy of Sciences, 138, 160185.","journal-title":"G; Annals of the New York Academy of Sciences"},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"919","DOI":"10.1212\/WNL.13.11.919","article-title":"Rapid examination of muscle tissue, an improved trichrome method for fresh-frozen biopsy sections","volume":"13","author":"Engel, W.K.; Cunningham, G.C.","year":"1963","unstructured":"Engel, W. K., and Cunningham, G. C. (1963). Rapid examination of muscle tissue, an improved trichrome method for fresh-frozen biopsy sections. Neurology (Minneap.), 13, 919-923.","journal-title":"Neurology (Minneap.)"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"167","DOI":"10.1093\/brain\/84.2.167","article-title":"Central core disease. An investigation of a rare muscle cell abnormality","volume":"84","author":"Engel, W.K.; Foster, J.B.; Hughes, B.P.; Huxley, H.E.; Mahler, R.","year":"1961","unstructured":"Engel, W. K, Foster, J. B., Hughes, B. P., Huxley, H. E., and Mahler, R (1961). Central core disease. An investigation of a rare muscle cell abnormality. Brain, 84, 167-185.","journal-title":"Brain"},{"key":"ref_15","first-page":"503","article-title":"Central 'core' disease of skeletal muscle. Ultrastructural and cytochemical observations in two cases","volume":"57","author":"Gonatas, N.K.; Perez, M.C.; Shy, G.M.; Evangelista, I.","year":"1965","unstructured":"Gonatas, N K, Perez, M. C., Shy, G M., and Evangelista, I. (1965). Central 'core' disease of skeletal muscle. Ultrastructural and cytochemical observations in two cases. American Journal of Pathology, 57, 503-524.","journal-title":"American Journal of Pathology"},{"key":"ref_16","first-page":"640","article-title":"Central core disease associated with elevated creatine phosphokinase levels. Two members of a family known to be susceptible to malignant hyperpyrexia","volume":"48","author":"Isaacs, H.; Barlow, M.B.","year":"1974","unstructured":"Isaacs, H., and Barlow, M. B. (1974). Central core disease associated with elevated creatine phosphokinase levels. Two members of a family known to be susceptible to malignant hyperpyrexia. South African Medical Journal, 48, 640-642.","journal-title":"South African Medical Journal"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1231","DOI":"10.1136\/jnnp.37.11.1231","article-title":"Continuous muscle fibre activity. Cured. Further studies","volume":"37","author":"Isaacs, H.; Heffron, J.J.A.","year":"1975","unstructured":"Isaacs, H., and Heffron, J. J. A. (1975a). Continuous muscle fibre activity. Cured. Further studies. Journal of Neurology, Neurosurgery, and Psychiatry, 37, 1231-1235.","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1093\/bja\/47.4.475","article-title":"Morphological and biochemical defects in muscles of human carriers of the malignant hyperthermia syndrome","volume":"47","author":"Isaacs, H.; Heffron, J.J.A.","year":"1975","unstructured":"Isaacs, H., and Heffron, J. J. A. (1975b). Morphological and biochemical defects in muscles of human carriers of the malignant hyperthermia syndrome. British Journal of Anaesthesia, 47, 475.","journal-title":"British Journal of Anaesthesia"},{"key":"ref_19","first-page":"98","volume-title":"Oxidative metabolism in small samples of normal and diseased human muscle. In Clinical Studies in Myology","author":"Kark, R.A.P.; Weinbach, E.C.; Blass, J.P.; Engel, W.K.","year":"1973","unstructured":"Kark, R. A. P., Weinbach, E. C., Blass, J. P., and Engel, W. K. (1973). Oxidative metabolism in small samples of normal and diseased human muscle. In Clinical Studies in Myology, pp. 98-107. Edited by B. A. Kakulas. Excerpta Medica: Amsterdam."},{"key":"ref_20","first-page":"\"291","article-title":"A new concept of childhood nemaline myopathy","volume":"24","author":"Beckmann, R.","year":"1971","unstructured":"Karpati, G., Carpenter, S., and Anderman, Fr. (1971). A new concept of childhood nemaline myopathy. Archives of Neurology (Clhic.), 24, 291-304 Laudahn, G., and Heyck, H. (1965). Muskelenzym-Befunde bei der progressive Muskeldystrophie. In Myopathien, p. 165. Edited by R. Beckmann. Thieme: Stuttgart.","journal-title":"Archives of Neurology (Clhic.); Myopathien; Muskelenzym-Befunde bei der progressive Muskeldystrophie"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"501","DOI":"10.1016\/S0021-9258(18)56484-X","article-title":"A reference base and system for analysis of muscle constituents","volume":"182","author":"Lilienthal, Jr, J.L.; Zierler, K.L.; Folk, B.P.; Buka, R.; Riley, M.J.","year":"1950","unstructured":"Lilienthal, J. L., Jr, Zierler, K L., Folk, B. P., Buka, R., and Riley, M. J. (1950). A reference base and system for analysis of muscle constituents. Journal of Biological Chemistry, 182, 501-508.","journal-title":"Journal of Biological Chemistry"},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"265","DOI":"10.1016\/S0021-9258(19)52451-6","article-title":"Protein measurement with the folin phenol reagent","volume":"193","year":"1951","unstructured":"Lowry, 0. M., Rosebrough, N. J., Farr, A. L., and Randall, R. J. (1951). Protein measurement with the folin phenol reagent. Journal of Biological Chemistry, 193, 265-275.","journal-title":"Journal of Biological Chemistry"},{"issue":"1099-1","key":"ref_23","article-title":"Early biochemical consequences of denervation in fast and slow skeletal muscles and their relationship to neural control over muscle differentiation","volume":"126","author":"Margreth, A.Salviati; G., Di Mauro; S.; Turati, G.","year":"1972","unstructured":"Margreth, A. Salviati, G., Di Mauro, S., and Turati, G. (1972). Early biochemical consequences of denervation in fast and slow skeletal muscles and their relationship to neural control over muscle differentiation. Biochemical Journal, 126, 1099-1 1 10.","journal-title":"Biochemical Journal"},{"key":"ref_24","first-page":"232","article-title":"Klinische, histologische und histochemische Untersuchungen uber einen Fall von Central Core Disease","author":"Mittelbach, F.; Pongratz, D.","year":"1968","unstructured":"Mittelbach, F., and Pongratz, D. (1968). Klinische, histologische und histochemische Untersuchungen uber einen Fall von Central Core Disease (Zentralfibrillen-Myopathie). Deutsche Zeitshrift fur unde Nervenheilk, 194, 232-242."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1056\/NEJM196901232800403","article-title":"Biochemical abnormalities of the sarcoplasmic reticulum in muscular dystrophy","volume":"280","author":"Samaha, F.J.; Gergely, J.","year":"1969","unstructured":"Samaha, F. J., and Gergely, J. (1969). Biochemical abnormalities of the sarcoplasmic reticulum in muscular dystrophy. New England Journal of Medicine, 280, 184-188.","journal-title":"New England Journal of Medicine"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1001\/archneur.1969.00480120071006","article-title":"Tenotomy. Effect on the fine structure of the soleus of the rat","volume":"20","author":"Shafiq, S.A.; Goryckl, M.A.; Asiedu, S.A.; Milhorat, A.T.","year":"1969","unstructured":"Shafiq, S. A., Goryckl, M. A., Asiedu, S. A., and Milhorat, A. T. (1969). Tenotomy. Effect on the fine structure of the soleus of the rat. Archives of Neurology (Chic.), 20, 625-633.","journal-title":"Archives of Neurology (Chic.)"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"610","DOI":"10.1093\/brain\/79.4.610","article-title":"A new congenital non-progressive myopathy","volume":"79","author":"Shy, M.G.; Magee, K.R.","year":"1956","unstructured":"Shy, M. G., and Magee, K. R. (1956). A new congenital non-progressive myopathy. Brain, 79, 610-621.","journal-title":"Brain"},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"25","DOI":"10.1016\/0003-9861(69)90246-X","article-title":"Temperature, pH and seasonal dependence of Ca-uptake and ATPase activity of white and red muscle microsomes","volume":"134","author":"Streter, F.A.","year":"1969","unstructured":"Streter, F. A. (1969). Temperature, pH and seasonal dependence of Ca-uptake and ATPase activity of white and red muscle microsomes. Archives of Biochemistry and Biophysics, 134, 25-33.","journal-title":"Archives of Biochemistry and Biophysics"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"207","DOI":"10.1016\/0022-510X(73)90163-9","article-title":"Central core disease. A study of clinically unaffected muscle","volume":"19","author":"Telerman-Toppet, N.; Gerard, S.M.; Coers, C.","year":"1973","unstructured":"Telerman-Toppet, N., Gerard, S. M., and Coers, C. (1973). Central core disease. A study of clinically unaffected muscle. Journal of the Neurological Sciences, 19, 207-223","journal-title":"Journal of the Neurological Sciences"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.38.12.1177","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T08:50:57Z","timestamp":1632127857000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.38.12.1177"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1975,12,1]]},"references-count":29,"journal-issue":{"issue":"12","published-print":{"date-parts":[[1975,12,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.38.12.1177","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1975,12,1]]}}}