{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,11]],"date-time":"2025-10-11T17:38:44Z","timestamp":1760204324336},"reference-count":26,"publisher":"BMJ","issue":"5","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"published-print":{"date-parts":[[1973,10,1]]},"DOI":"10.1136\/jnnp.36.5.806","type":"journal-article","created":{"date-parts":[[2008,11,10]],"date-time":"2008-11-10T21:02:42Z","timestamp":1226350962000},"page":"806-812","source":"Crossref","is-referenced-by-count":20,"title":["Mitochondrial functions in five cases of human neuromuscular disorders"],"prefix":"10.1136","volume":"36","author":[{"given":"A.","family":"Gimeno","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J. L.","family":"Trueba","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Blanco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.","family":"Gosalvez","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"239","reference":[{"key":"ref_1","first-page":"221","article-title":"Ultrastructure of muscle in myotonic dystrophy: preliminary observations","volume":"45","author":"Aleu, F.P.; Afifi, A.K.","year":"1964","unstructured":"Aleu, F. P., and Afifi, A. K. (1964). Ultrastructure of muscle in myotonic dystrophy: preliminary observations. American Journal of Pathology, 45, 221-231.","journal-title":"American Journal of Pathology"},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"569","DOI":"10.1093\/brain\/89.3.569","article-title":"Familial non-progressive myopathy, with muscle cramps after exercise. A new disease associated with cores in the muscle fibres","volume":"89","author":"Bethlem, J.; Gool, J.van; Hulsmann, W.C.; H, Meijer A.E.F.","year":"1966","unstructured":"Bethlem, J., Gool, J. van, Hulsmann, W. C., and Meijer A. E. F. H. (1966). Familial non-progressive myopathy, with muscle cramps after exercise. A new disease associated with cores in the muscle fibres. Brain, 89, 569-588.","journal-title":"Brain"},{"key":"ref_3","first-page":"495","article-title":"Myopathy associated with abnormal lipid metabolism in skeletal muscle","volume":"1","author":"Bradley, W.G.; Hudgson, P.; Gardner-Medwin, D.; Walton, J.N.","year":"1969","unstructured":"Bradley, W. G., Hudgson, P., Gardner-Medwin, D., and Walton, J. N. (1969). Myopathy associated with abnormal lipid metabolism in skeletal muscle. Lancet, 1, 495-498.","journal-title":"Lancet"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/BF00685312","article-title":"'Megaconial' mitochondria observed in a case of chronic polymyositis","volume":"12","author":"Chou, S.M.","year":"1969","unstructured":"Chou, S. M. (1969). 'Megaconial' mitochondria observed in a case of chronic polymyositis. Acta Neuropathologia (Berl.), 12, 68-89.","journal-title":"Acta Neuropathologia (Berl.)"},{"key":"ref_5","first-page":"624","article-title":"New myopathy with mitochondrial enzyme hyperactivity","author":"Coleman, R.F.; Nienhuis, A.W.; Brown, W.J.; Munsat, T.L.; Pearson, C.M.","year":"1967","unstructured":"Coleman, R. F., Nienhuis, A. W., Brown, W. J., Munsat, T. L., Pearson, C. M. (1967). New myopathy with mitochondrial enzyme hyperactivity. Journal of the American Medical Association, 199, 624-630.","journal-title":"Journal of the American Medical Association"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"388","DOI":"10.1001\/archneur.1968.00470340074007","article-title":"Familial myopathy with abnormal muscle mitochondria","volume":"18","author":"D'Agostino, A.N.; Ziter, F.A.; Rallison, M.L.; Bray, P.F.","year":"1968","unstructured":"D'Agostino, A. N., Ziter, F. A., Rallison, M. L., and Bray, P. F. (1968). Familial myopathy with abnormal muscle mitochondria. Archives of Neurology, 18, 388-401.","journal-title":"Archives of Neurology"},{"key":"ref_7","series-title":"Mayo Clinic Proceedings","first-page":"233","article-title":"Autophagic glycogenosis of late onset with mitochondrial abnormalities","volume":"43","author":"Engel, A.G.; Dale, A.J.D.","year":"1968","unstructured":"Engel, A. G., Dale, A. J. D. (1968). Autophagic glycogenosis of late onset with mitochondrial abnormalities. Mayo Clinic Proceedings, 43, 233-279."},{"key":"ref_8","first-page":"86","article-title":"Skeletal muscle mitochondria","volume-title":"Methods in Enzymology","volume":"10","author":"Ernster, L.; Nordenbrand, K.","year":"1967","unstructured":"Ernster, L., and Nordenbrand, K. (1967). Skeletal muscle mitochondria. In Methods in Enzymology, Vol. 10, pp. 86-94. Academic Press: New York."},{"key":"ref_9","first-page":"41","article-title":"Mitochondrial respiratory control and the polarographic measurement of ADP: 0 ratios","volume-title":"Methods in Enzymology","volume":"10","author":"Estabrook, R.W.","year":"1967","unstructured":"Estabrook, R. W. (1967). Mitochondrial respiratory control and the polarographic measurement of ADP: 0 ratios. In Methods in Enzymology, Vol. 10, pp. 41-47. Academic Press: New York."},{"key":"ref_10","article-title":"A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome","author":"Gonatas, N.K.","year":"1967","unstructured":"Gonatas, N. K. (1967). A generalized disorder of nervous system, skeletal muscle and heart resembling Refsum's disease and Hurler's syndrome."},{"key":"ref_11","first-page":"\"169","article-title":"Central 'core' disease of skeletal muscle. Ultrastructural and cytochemical observations in two cases","volume":"42","author":"Ultrastructure","year":"1965","unstructured":"Ultrastructure. American Journal of Medicine, 42, 169-178. 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, 47, 503-524.","journal-title":"American Journal of Medicine"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"751","DOI":"10.1016\/S0021-9258(18)57021-6","article-title":"Determination of serum proteins by means of the biuret reaction","volume":"177","author":"Gornall, A.G.; Bardawill, C.J.; David, M.M.","year":"1949","unstructured":"Gornall, A. G., Bardawill, C. J., and David, M. M. (1949). Determination of serum proteins by means of the biuret reaction. Journal of Biological Chemistry, 177, 751-766.","journal-title":"Journal of Biological Chemistry"},{"key":"ref_13","first-page":"181","article-title":"Sur quelques anomalies mitochondriales observees au cours d'affections musculaires variees","volume":"157","author":"Gruner, J.E.","year":"1963","unstructured":"Gruner, J. E. (1963). Sur quelques anomalies mitochondriales observees au cours d'affections musculaires variees. Comptes Rendus des Seances de la Societe de Biologie, 157, 181-182.","journal-title":"Comptes Rendus des Seances de la Societe de Biologie"},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"519","DOI":"10.1136\/jnnp.30.6.519","article-title":"Myopathy with abnormal structure and function of muscle mitochondria","volume":"30","author":"Hulsmann, W.C.; Bethlem, J.; Meijer, A.E.F.H.; Fleury, P.; Schellens, J.P.M.","year":"1967","unstructured":"Hulsmann, W. C., Bethlem, J., Meijer, A. E. F. H., Fleury, P., and Schellens, J. P. M. (1967). Myopathy with abnormal structure and function of muscle mitochondria. Journal of Neurology, Neurosurgery, and Psychiatry, 30, 519-525.","journal-title":"Journal of Neurology, Neurosurgery, and Psychiatry"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"292","DOI":"10.1016\/0005-2728(68)90112-6","article-title":"Mitochondria with loosely and tightly coupled oxidative phosphorylation in skeletal muscle","volume":"162","author":"Hulsmann, W.C.; Jong, J.W.de; Tol, A.van","year":"1968","unstructured":"Hulsmann, W. C., Jong, J. W. de, Tol, A. van (1968). Mitochondria with loosely and tightly coupled oxidative phosphorylation in skeletal muscle. Biochemica et Biophysica Acta, 162, 292-293.","journal-title":"Biochemica et Biophysica Acta"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"1776","DOI":"10.1172\/JCI104637","article-title":"A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control","volume":"41","author":"Luft, R.; Ikkos, D.; Palmieri, G.; Ernster, L.; Afzeluis, B.","year":"1962","unstructured":"Luft, R., Ikkos, D., Palmieri, G., Ernster, L., and Afzeluis, B. (1962). A case of severe hypermetabolism of nonthyroid origin with a defect in the maintenance of mitochondrial respiratory control. Journal of Clinical Investigation, 41, 1776-1804.","journal-title":"Journal of Clinical Investigation"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"1394","DOI":"10.1016\/S0006-291X(72)80130-X","article-title":"Disuse atrophy of skeletal muscle: loss of functional activity of mitochondria","volume":"46","author":"Max, S.R.","year":"1972","unstructured":"Max, S. R. (1972). Disuse atrophy of skeletal muscle: loss of functional activity of mitochondria. Biochemical and Biophysical Research Communications, 46, 1394-1398.","journal-title":"Biochemical and Biophysical Research Communications"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"574","DOI":"10.1001\/archneur.1966.00470120006002","article-title":"Hypothyroid myopathy. Clinical, electromyographical, and ultrastructural observations","volume":"14","author":"Norris, Jr., F.H.; Panner, B.J.","year":"1966","unstructured":"Norris, F. H., Jr., and Panner, B. J. (1966). Hypothyroid myopathy. Clinical, electromyographical, and ultrastructural observations. Archives of Neurology, 14, 574-589.","journal-title":"Archives of Neurology"},{"key":"ref_19","series-title":"Biochemistry and electron microscopy of mitochondria in muscular and neuromuscular diseases. In Muscle Diseases. Proceedings of an International Congress","first-page":"228","article-title":"Excerpta Medica: Amsterdam","author":"Peter, J.B.; Stempel, K.; Armstrong, J.","year":"1970","unstructured":"Peter, J. B., Stempel, K., and Armstrong, J. (1970). Biochemistry and electron microscopy of mitochondria in muscular and neuromuscular diseases. In Muscle Diseases. Proceedings of an International Congress, Milan, 1969, pp. 228-235. Edited by J. N. Walton, N. Canal, and G. Scarlato. International Congress Series No. 199. Excerpta Medica: Amsterdam."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"475","DOI":"10.1097\/00005072-196707000-00009","article-title":"Myopathy with atypical mitochondria in type I skeletal muscle fibres","volume":"26","author":"Price, H.M.; Gordon, G.B.; Munsat, T.L.; Pearson, C.M.","year":"1967","unstructured":"Price, H. M., Gordon, G. B., Munsat, T. L., and Pearson, C. M. (1967). Myopathy with atypical mitochondria in type I skeletal muscle fibres. Journal of Neuropathology and Experimental Neurology, 26, 475-497.","journal-title":"Journal of Neuropathology and Experimental Neurology"},{"key":"ref_21","article-title":"Two childhood myopathies with abnormal mitochondria","author":"Shy, G.M.; Gonatas, N.K.; Perez, M.","year":"1966","unstructured":"Shy, G. M., Gonatas, N. K., and Perez, M. (1966). Two childhood myopathies with abnormal mitochondria."},{"key":"ref_22","article-title":"Megaconial myopathy","unstructured":"Megaconial myopathy."},{"key":"ref_23","first-page":"\"133","article-title":"Manometric methods and phosphate determination","volume":"89","author":"myopathy, Pleoconial","year":"1967","unstructured":"Pleoconial myopathy. Brain, 89, 133-158. Slater, E. C. (1967). Manometric methods and phosphate determination. In Methods in Enzymology, Vol. 10, pp. 1929. Academic Press: London.","journal-title":"Brain; Methods in Enzymology"},{"key":"ref_24","first-page":"290","article-title":"Myopathic disorder associated with mitochondrial abnormalities, hyperglycaemia, and hyperketonaemia","volume":"2","author":"Salomon, M.A.; Esiri, M.M.; Ruderman, N.B.","year":"1971","unstructured":"Salomon, M. A., Esiri, M. M., and Ruderman, N. B. (1971). Myopathic disorder associated with mitochondrial abnormalities, hyperglycaemia, and hyperketonaemia. Lancet, 2, 290-293.","journal-title":"Lancet"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"259","DOI":"10.1001\/archneur.1970.00480210069009","article-title":"A new mitochondrial myopathy in a patient with salt craving","volume":"22","author":"Spiro, A.J.; Prineas, J.W.; Moore, C.L.","year":"1970","unstructured":"Spiro, A. J., Prineas, J. W., and Moore, C. L. (1970). A new mitochondrial myopathy in a patient with salt craving. Archives of Neurology (Chicago), 22, 259-269.","journal-title":"Archives of Neurology (Chicago)"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"577","DOI":"10.1093\/brain\/90.3.577","article-title":"Skeletal muscle disease with abnormal mitochondria","volume":"90","author":"Wijngaarden, G.K.van; Bethlem, J.; Meijer, A.E.F.H.; Hulsmann, W.C.; Feltkamp, C.A.","year":"1967","unstructured":"Wijngaarden, G. K. van, Bethlem, J., Meijer, A. E. F. H., Hulsmann, W. C., and Feltkamp, C. A. (1967). Skeletal muscle disease with abnormal mitochondria. Brain, 90, 577-592.","journal-title":"Brain"}],"container-title":["Journal of Neurology, Neurosurgery &amp; Psychiatry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/syndication.highwire.org\/content\/doi\/10.1136\/jnnp.36.5.806","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2021,9,20]],"date-time":"2021-09-20T09:02:23Z","timestamp":1632128543000},"score":1,"resource":{"primary":{"URL":"https:\/\/jnnp.bmj.com\/lookup\/doi\/10.1136\/jnnp.36.5.806"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1973,10,1]]},"references-count":26,"journal-issue":{"issue":"5","published-print":{"date-parts":[[1973,10,1]]}},"URL":"https:\/\/doi.org\/10.1136\/jnnp.36.5.806","relation":{},"ISSN":["0022-3050"],"issn-type":[{"value":"0022-3050","type":"print"}],"subject":[],"published":{"date-parts":[[1973,10,1]]}}}