{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,28]],"date-time":"2026-04-28T06:10:59Z","timestamp":1777356659100,"version":"3.51.4"},"reference-count":32,"publisher":"Oxford University Press (OUP)","issue":"797","license":[{"start":{"date-parts":[[1992,3,1]],"date-time":"1992-03-01T00:00:00Z","timestamp":699408000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/academic.oup.com\/pages\/standard-publication-reuse-rights"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[1992,3,1]]},"abstract":"<jats:title>Summary<\/jats:title>\n               <jats:p>Mitochondrial diseases are polymorphic entities which may affect many organs and systems. Skeletal muscle involvement is frequent in the context of systemic mitochondrial disease, but adult-onset pure mitochondrial myopathy appears to be rare.<\/jats:p>\n               <jats:p>We report 3 patients with progressive skeletal mitochondrial myopathy starting in adult age. In all cases, the proximal myopathy was the only clinical feature. Mitochondrial pathology was confirmed by evidence of ragged-red fibres in muscle histochemistry, an abnormal mitochondrial morphology in electron microscopy and by exclusion of other underlying diseases. No deletions of mitochondrial DNA were found.<\/jats:p>\n               <jats:p>We emphasize the need to look for a mitochondrial disorder in some non-specific myopathies starting in adult life.<\/jats:p>","DOI":"10.1136\/pgmj.68.797.212","type":"journal-article","created":{"date-parts":[[2008,12,29]],"date-time":"2008-12-29T21:01:03Z","timestamp":1230584463000},"page":"212-215","source":"Crossref","is-referenced-by-count":13,"title":["Adult-onset mitochondrial myopathy"],"prefix":"10.1093","volume":"68","author":[{"given":"J","family":"Fernandez-Sola","sequence":"first","affiliation":[{"name":"Muscle Research Group, Internal Medicine Servic , Villarroel 170, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J","family":"Casademont","sequence":"additional","affiliation":[{"name":"Muscle Research Group, Internal Medicine Servic , Villarroel 170, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J M","family":"Grau","sequence":"additional","affiliation":[{"name":"Muscle Research Group, Internal Medicine Servic , Villarroel 170, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Graus","sequence":"additional","affiliation":[{"name":"Department of Neurology, Hospital Clinic , Villarroel 170, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"F","family":"Cardellach","sequence":"additional","affiliation":[{"name":"Muscle Research Group, Internal Medicine Servic , Villarroel 170, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"E","family":"Pedrol","sequence":"additional","affiliation":[{"name":"Muscle Research Group, Internal Medicine Servic , Villarroel 170, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A","family":"Urbano-Marquez","sequence":"additional","affiliation":[{"name":"Muscle Research Group, Internal Medicine Servic , Villarroel 170, 08036 Barcelona, Spain"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"286","published-online":{"date-parts":[[1992,3,1]]},"reference":[{"issue":"149","key":"ref_1","first-page":"30","article-title":"Current perspectives in the study of human mitochondriopathies","volume":"1988","author":"Byrne, E.; Marzuky, S.; Dennett, X.","unstructured":"Byrne, E., Marzuky, S. & Dennett, X. Current perspectives in the study of human mitochondriopathies. Med J Aust 1988, 149: 30-33.","journal-title":"Med J Aust"},{"issue":"488","key":"ref_2","first-page":"1","article-title":"Mitochondrial pathology: an overview","volume":"1986","author":"Carafoly, E.","unstructured":"Carafoly, E. Mitochondrial pathology: an overview. Ann NY Acad Sci 1986, 488: 1-18.","journal-title":"Acad Sci"},{"issue":"56","key":"ref_3","first-page":"741","article-title":"Mitochondrial cytopathy. A multisystem disorder with ragged-red fibers on muscle biopsy","volume":"1981","author":"Egger, J.; Lake, B.D.; Wilson, J.","unstructured":"Egger, J., Lake, B.D. & Wilson, J. Mitochondrial cytopathy. A multisystem disorder with ragged-red fibers on muscle biopsy. Arch Dis Child 1981, 56: 741-752.","journal-title":"Arch Dis Child"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1016\/0022-510X(87)90060-8","article-title":"A mitochondrial encephalomyopathy with cardiomyopathy","volume":"78","author":"Nishizawa, M.; Tanaka, K.; Shinozawa, K.","year":"1987","unstructured":"Nishizawa, M., Tanaka, K., Shinozawa, K. et al. A mitochondrial encephalomyopathy with cardiomyopathy. J Neurol Sci 1987, 78: 189-201.","journal-title":"J Neurol Sci"},{"issue":"1","key":"ref_5","first-page":"140","article-title":"The search for mitochondrial inheritance of human diseases","volume":"1985","author":"Merril, C.R.; Harrington, M.G.","unstructured":"Merril, C.R. & Harrington, M.G. The search for mitochondrial inheritance of human diseases. 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Hosp Practice 1986, 21: 77-93.","journal-title":"Hosp Practice"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"1293","DOI":"10.1056\/NEJM198905183202001","article-title":"Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome","volume":"320","author":"Moraes, C.T.; DiMauro, S.; Zeviani, M.","year":"1989","unstructured":"Moraes, C.T., DiMauro, S., Zeviani, M. et al. Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engi J Med 1989, 320: 1293-1299.","journal-title":"N Engi J Med"},{"issue":"38","key":"ref_9","first-page":"1339","article-title":"Deletions of mitochondrial DNA in Kearn-Sayre syndrome","volume":"1988","author":"Zeviani, M.; Moraes, C.T.; DiMauro, S.","unstructured":"Zeviani, M., Moraes, C.T., DiMauro, S. et al. Deletions of mitochondrial DNA in Kearn-Sayre syndrome. Neurology 1988, 38: 1339-1346.","journal-title":"Neurology"},{"key":"ref_10","first-page":"1709","article-title":"The mitochondrial myopathies","author":"Morgan-Hughes, J.A.","year":"1986","unstructured":"Morgan-Hughes, J.A. The mitochondrial myopathies. In: Engel, A.G. & Banker, B.Q. (eds) Myology. McGraw-Hill, New York, 1986, pp. 1709-1743."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"301","DOI":"10.1016\/0022-510X(73)90078-6","article-title":"Late onset mitochondrial myopathy","volume":"18","author":"Shibasaki, H.; Santa, T.; Kuroiwa, Y.","year":"1973","unstructured":"Shibasaki, H., Santa, T. & Kuroiwa, Y. Late onset mitochondrial myopathy. J Neurol Sci 1973, 18: 301-310.","journal-title":"J Neurol Sci"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"440","DOI":"10.1016\/0002-8703(90)90097-H","article-title":"Kearns-Sayre syndrome in the elderly: mitochondrial myopathy with advanced heart block","volume":"2","author":"Kenny, D.; Wetherbee, J.","year":"1990","unstructured":"Kenny, D. & Wetherbee, J. Kearns-Sayre syndrome in the elderly: mitochondrial myopathy with advanced heart block. Am Heart J 1990, 2: 440-443.","journal-title":"Am Heart J"},{"issue":"10","key":"ref_13","first-page":"62","article-title":"Morphological observations is skeletal muscle from patients with a mitochondrial myopathy","volume":"1987","author":"Stadhouders, A.M.; Seengers, R.C.A.","unstructured":"Stadhouders, A.M. & Seengers, R.C.A. Morphological observations is skeletal muscle from patients with a mitochondrial myopathy. J Inherited Metab Dis 1987, 10 (Suppl 1): 62-80.","journal-title":"J Inherited Metab Dis"},{"issue":"25","key":"ref_14","first-page":"528","article-title":"Mitochondrial myopathy: a genetic study of 71 cases","volume":"1988","author":"Harding, A.E.; Petty, R.K.H.; Morgan-Hughes, J.A.","unstructured":"Harding, A.E., Petty, R.K.H. & Morgan-Hughes, J.A. Mitochondrial myopathy: a genetic study of 71 cases. J Med Genet 1988, 25: 528-535.","journal-title":"J Med Genet"},{"key":"ref_15","first-page":"309","volume":"17","author":"Munsat, T.L.; Coleman, R.F.; Pearson, C.F.; Price, H.M.","year":"1967","unstructured":"Munsat, T.L., Coleman, R.F., Pearson, C.F. & Price, H.M. Mitochondrial myopathy. Neurology 1967, 17: 309.","journal-title":"Mitochondrial myopathy. 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Nature 1988, 331: 717-719.","journal-title":"Nature"},{"key":"ref_23","first-page":"176","article-title":"Pathology of Skeletal Muscle","author":"Carpenter, S.; Karpati, G.Mitochondria","year":"1984","unstructured":"Carpenter, S. & Karpati, G. Mitochondria. In: Carpenter, S. & Karpati, G. (eds) Pathology of Skeletal Muscle. Churchill Livingstone, New York, 1984, pp. 176-193."},{"issue":"74","key":"ref_24","first-page":"247","article-title":"'Ragged-red' fibers in myotonic distrophy","volume":"1986","author":"Ono, S.; Kurisaki, H.; Inouye, K.; Mannen, T.","unstructured":"Ono, S., Kurisaki, H., Inouye, K. & Mannen, T. 'Ragged-red' fibers in myotonic distrophy. 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Acta Neuropathol (Berl) 1985, 68: 164-168.","journal-title":"Acta Neuropathol (Berl)"},{"key":"ref_29","first-page":"142","article-title":"Diverse clinical disorders associated with morphological abnormalities of mitochondria","volume-title":"Mitochondria and Disease","author":"Rowland, L.P.; Hays, A.P.; DiMauro, S.","year":"1983","unstructured":"Rowland, L.P., Hays, A.P., DiMauro, S. et al. Diverse clinical disorders associated with morphological abnormalities of mitochondria. In: Scarlato, G. & Cerri, C. (eds) Mitochondria and Disease. Piccin Medical Books, Milan, 1983, pp. 142-158."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1007\/978-1-4757-6903-6_60","article-title":"Treatment of piruvic and lactic acidemia in ophthalmoplegia plus","volume":"153","author":"Scarlato, G.; Maggio, M.; Fici, F.; Cerri, C.","year":"1982","unstructured":"Scarlato, G., Maggio, M., Fici, F. & Cerri, C. Treatment of piruvic and lactic acidemia in ophthalmoplegia plus. Adv Exp Med Biol 1982, 153: 487-500.","journal-title":"Adv Exp Med Biol"},{"key":"ref_31","first-page":"2","article-title":"NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin","author":"Arts, W.F.M.; Scholte, H.R.; Bogaaed, J.M.; Kerrebijin, K.F.; Luyt-Houwen, I.E.M.","year":"1983","unstructured":"Arts, W.F.M., Scholte, H.R., Bogaaed, J.M., Kerrebijin, K.F. & Luyt-Houwen, I.E.M. NADH-CoQ reductase deficient myopathy: successful treatment with riboflavin. Lancet 1983, 2: 581-582.","journal-title":"Lancet"},{"issue":"36","key":"ref_32","first-page":"45","article-title":"Treatment of Kearns-Sayre syndrome with coenzyme Q'0","volume":"1986","author":"Ogasahara, S.; Nishkawa, Y.; Yorifuji, S.H.","unstructured":"Ogasahara, S., Nishkawa, Y., Yorifuji, S.H. et al. Treatment of Kearns-Sayre syndrome with coenzyme Q'0. Neurology 1986, 36: 45-53.","journal-title":"Neurology"}],"container-title":["Postgraduate Medical Journal"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/68\/797\/212\/50074097\/postgradmedj-68-212.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/academic.oup.com\/pmj\/article-pdf\/68\/797\/212\/50074097\/postgradmedj-68-212.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,4,27]],"date-time":"2023-04-27T14:57:07Z","timestamp":1682607427000},"score":1,"resource":{"primary":{"URL":"https:\/\/academic.oup.com\/pmj\/article\/68\/797\/212\/7062268"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1992,3,1]]},"references-count":32,"journal-issue":{"issue":"797","published-online":{"date-parts":[[1992,3,1]]},"published-print":{"date-parts":[[1992,3,1]]}},"URL":"https:\/\/doi.org\/10.1136\/pgmj.68.797.212","relation":{},"ISSN":["0032-5473","1469-0756"],"issn-type":[{"value":"0032-5473","type":"print"},{"value":"1469-0756","type":"electronic"}],"subject":[],"published-other":{"date-parts":[[1992,3]]},"published":{"date-parts":[[1992,3,1]]}}}