{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,2]],"date-time":"2026-10-02T18:13:24Z","timestamp":1790964804835,"version":"4.1.0"},"reference-count":112,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":7068,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1985,6]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Mitochondrial myopathies are clinically heterogeneous disorders that can affect multiple systems besides skeletal muscle (<jats:italic>mitochondrial encephalomyopathies or cytopathies<\/jats:italic>) and are usually defined by morphological abnormalities of muscle mitochondria. There are a few distinctive syndromes, such as the Kearns\u2010Sayre syndrome; myoclonus epilepsy with ragged\u2010red fibers; and mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes. Biochemically, mitochondrial myopathies can be divided into defects of substrate utilization, oxidation\u2010phosphorylation coupling, and the respiratory chain. Because mitochondria have their own DNA and their own translation and transcription apparatuses, mitochondrial myopathies can be due to defects of either a nuclear or mitochondrial genome and can be transmitted by mendelian or maternal inheritance.<\/jats:p>","DOI":"10.1002\/ana.410170602","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T17:23:15Z","timestamp":1104600195000},"page":"521-538","source":"Crossref","is-referenced-by-count":615,"title":["Mitochondrial myopathies"],"prefix":"10.1002","volume":"17","author":[{"given":"Salvatore","family":"DiMauro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eduardo","family":"Bonilla","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Massimo","family":"Zeviani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masanori","family":"Nakagawa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Darryl C.","family":"DeVivo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2004,10,7]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130620"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90209-5"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410010104"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-5320(75)80103-1"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00687226"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-2944(78)90037-6"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(81)80834-7"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140411"},{"key":"e_1_2_1_11_2","unstructured":"BresolinN ShanskeS MillerRH et al: Fatal infantile cytochrome c oxidase deficiency: decrease of immunologically detectable enzyme in muscle.Neurology (Cleveland)(in press)"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.76.4.1967"},{"key":"e_1_2_1_13_2","volume-title":"Mitochondria and Muscular Diseases","author":"Busch HFM","year":"1981"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1016\/0098-2997(80)90005-9"},{"key":"e_1_2_1_15_2","first-page":"374","volume-title":"Recent Advances in Myology","author":"Carpenter S","year":"1975"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.79.24.7714"},{"key":"e_1_2_1_17_2","first-page":"29","article-title":"Dermatomyositis: ultrastructure of abnormal mitochondria in the skeletal muscle","volume":"7","author":"Chew EC","year":"1977","journal-title":"Ann Clin Lab Sci"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00685312"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(75)90232-4"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.179.4078.1140"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.80.16.5103"},{"key":"e_1_2_1_22_2","first-page":"57","volume-title":"Mitochondrial Pathology in Muscle Disease","author":"DeVivo DC","year":"1983"},{"key":"e_1_2_1_23_2","first-page":"175","volume-title":"Handbook of Clinical Neurology","author":"DiMauro S","year":"1979"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(76)90063-0"},{"key":"e_1_2_1_25_2","first-page":"111","volume-title":"Mitochondrial Pathology in Muscle Diseases","author":"DiMauro S","year":"1983"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.182.4115.929"},{"key":"e_1_2_1_27_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.30.8.795"},{"key":"e_1_2_1_28_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410140209"},{"key":"e_1_2_1_29_2","volume-title":"Myology","author":"DiMauro S"},{"key":"e_1_2_1_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880030502"},{"key":"e_1_2_1_31_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410130624"},{"key":"e_1_2_1_32_2","doi-asserted-by":"publisher","DOI":"10.1136\/adc.56.10.741"},{"key":"e_1_2_1_33_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198307213090304"},{"key":"e_1_2_1_34_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.11.3529"},{"key":"e_1_2_1_35_2","first-page":"664","volume-title":"Disorders of Voluntary Muscle","author":"Engel AG","year":"1981"},{"key":"e_1_2_1_36_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.179.4076.899"},{"key":"e_1_2_1_37_2","first-page":"233","article-title":"Autophagic glycogenosis of late onset with mitochondrial abnormalities: light and electron microscopic observations","volume":"43","author":"Engel AG","year":"1968","journal-title":"Proc Staff Meet Mayo Clin"},{"key":"e_1_2_1_38_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.7.819"},{"key":"e_1_2_1_39_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.13.11.919"},{"key":"e_1_2_1_40_2","first-page":"98","volume-title":"Muscle Diseases","author":"Fardeau M","year":"1970"},{"key":"e_1_2_1_41_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)92764-2"},{"key":"e_1_2_1_42_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1972.00490090055004"},{"key":"e_1_2_1_43_2","first-page":"88","volume-title":"Mitochondrial Pathology in Muscle Diseases","author":"Fukuhara N","year":"1983"},{"key":"e_1_2_1_44_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(80)90031-3"},{"key":"e_1_2_1_45_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.11.6715"},{"key":"e_1_2_1_46_2","first-page":"503","article-title":"Central \u201ccore\u201d disease of skeletal muscle","volume":"47","author":"Gonatas NK","year":"1965","journal-title":"Am J Pathol"},{"key":"e_1_2_1_47_2","doi-asserted-by":"publisher","DOI":"10.7326\/0003-4819-74-4-548"},{"key":"e_1_2_1_48_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/107.4.1165"},{"key":"e_1_2_1_49_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.8.898"},{"key":"e_1_2_1_50_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198404001-00772"},{"key":"e_1_2_1_51_2","doi-asserted-by":"publisher","DOI":"10.1515\/bchm2.1982.363.2.1133"},{"key":"e_1_2_1_52_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1973.00490270044007"},{"key":"e_1_2_1_53_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90125-9"},{"key":"e_1_2_1_54_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(82)80450-X"},{"key":"e_1_2_1_55_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0074-7696(08)61964-6"},{"key":"e_1_2_1_56_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.25.1.16"},{"key":"e_1_2_1_57_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198410000-00017"},{"key":"e_1_2_1_58_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00442074"},{"key":"e_1_2_1_59_2","first-page":"231","article-title":"Mitochondrial myopathies","volume":"7","author":"Land JM","year":"1979","journal-title":"Biochem Rev"},{"key":"e_1_2_1_60_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90115-5"},{"key":"e_1_2_1_61_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(81)90038-1"},{"key":"e_1_2_1_62_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.81.20.6295"},{"key":"e_1_2_1_63_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI104637"},{"key":"e_1_2_1_64_2","doi-asserted-by":"publisher","DOI":"10.1016\/0003-9861(68)90561-4"},{"key":"e_1_2_1_65_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90156-9"},{"key":"e_1_2_1_66_2","first-page":"515","volume-title":"Muscle Development","author":"Miranda AF","year":"1982"},{"key":"e_1_2_1_67_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01800742"},{"key":"e_1_2_1_68_2","first-page":"146","volume-title":"Recent Advances in Clinical Neurology","author":"Morgan\u2010Hughes JA","year":"1982"},{"key":"e_1_2_1_69_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/100.4.617"},{"key":"e_1_2_1_70_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(79)90071-6"},{"key":"e_1_2_1_71_2","first-page":"79","volume-title":"Neuromuscular Diseases","author":"Morgan\u2010Hughes JA","year":"1984"},{"key":"e_1_2_1_72_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/105.3.553"},{"key":"e_1_2_1_73_2","first-page":"20","volume-title":"Mitochondrial Pathology in Muscle Diseases","author":"Morgan\u2010Hughes JA","year":"1983"},{"key":"e_1_2_1_74_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00666215"},{"key":"e_1_2_1_75_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00695049"},{"key":"e_1_2_1_76_2","doi-asserted-by":"crossref","first-page":"24","DOI":"10.1542\/peds.64.1.24","article-title":"An X\u2010linked recessive cardiomyopathy with abnormal mitochondria","volume":"64","author":"Neustein HB","year":"1979","journal-title":"Pediatrics"},{"key":"e_1_2_1_77_2","unstructured":"NikoskelainenE: New aspects of the genetic etiological and clinical puzzle of Leber's disease.Neurology (Cleveland)(in press)"},{"key":"e_1_2_1_78_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198103000-00017"},{"key":"e_1_2_1_79_2","unstructured":"OgasawaraS YorifujiS NishikawaY et al: Improvement of abnormal pyruvate metabolism and cardiac conduction defect with coenzyme Q10 in Kearns\u2010Sayre syndrome.Neurology (Cleveland)(in press)"},{"key":"e_1_2_1_80_2","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.2.1.30"},{"key":"e_1_2_1_81_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1972.00490090019001"},{"key":"e_1_2_1_82_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-198418100-00023"},{"key":"e_1_2_1_83_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410160409"},{"key":"e_1_2_1_84_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1966.tb41162.x"},{"key":"e_1_2_1_85_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410030519"},{"key":"e_1_2_1_86_2","doi-asserted-by":"publisher","DOI":"10.1016\/0303-8467(83)90024-0"},{"key":"e_1_2_1_87_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.31.7.813"},{"key":"e_1_2_1_88_2","first-page":"533","article-title":"Carnitine metabolism and deficiency syndromes","volume":"58","author":"Rebouche CJ","year":"1983","journal-title":"Mayo Clin Proc"},{"key":"e_1_2_1_89_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00313387"},{"key":"e_1_2_1_90_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170303"},{"key":"e_1_2_1_91_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.33.9.1179"},{"key":"e_1_2_1_92_2","first-page":"142","volume-title":"Mitochondrial Pathology in Muscle Diseases","author":"Rowland LP","year":"1983"},{"key":"e_1_2_1_93_2","volume-title":"Mitchondrial Pathology in Muscle Diseases","author":"Scarlato G","year":"1983"},{"key":"e_1_2_1_94_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(83)90450-6"},{"key":"e_1_2_1_95_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1976.00500070017003"},{"key":"e_1_2_1_96_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00572761"},{"key":"e_1_2_1_97_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00443221"},{"key":"e_1_2_1_98_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.18.8.785"},{"key":"e_1_2_1_99_2","first-page":"161","article-title":"Mitochondrial encephalopathy: a group of neuromuscular disorders with defects in oxidative metabolism","volume":"13","author":"Shapira Y","year":"1977","journal-title":"Isr J Med Sci"},{"key":"e_1_2_1_100_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/86.4.793"},{"key":"e_1_2_1_101_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.145.3631.493"},{"key":"e_1_2_1_102_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/89.1.133"},{"key":"e_1_2_1_103_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1970.00480260009002"},{"key":"e_1_2_1_104_2","first-page":"117","article-title":"Mitochondrial multisystem disorders: clinical, biochemical and morphologic features","volume":"2","author":"Stumpf DA","year":"1979","journal-title":"Curr Neurol"},{"key":"e_1_2_1_105_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01810360"},{"key":"e_1_2_1_106_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198108133050707"},{"key":"e_1_2_1_107_2","volume-title":"Mitochondria","author":"Tzagoloff A","year":"1982"},{"key":"e_1_2_1_108_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197711100-00005"},{"key":"e_1_2_1_109_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(82)80294-1"},{"key":"e_1_2_1_110_2","first-page":"697","article-title":"Assignment of the chloramphenicol resistance gene to mitochondrial deoxyribonucleic acid and analysis of its expression in cultured human cells","volume":"1","author":"Wallace DC","year":"1981","journal-title":"Mol Cell Biol"},{"key":"e_1_2_1_111_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01550989"},{"key":"e_1_2_1_112_2","doi-asserted-by":"crossref","first-page":"850","DOI":"10.1542\/peds.60.6.850","article-title":"Liegh's encephalomyelopathy in a patient with cytochrome c oxidase deficiency in muscle tissue","volume":"60","author":"Willems JL","year":"1977","journal-title":"Pediatrics"},{"key":"e_1_2_1_113_2","first-page":"41","article-title":"Fatal infantile mitochondrial myopathy and renal dysfunction due to cytochrome c oxidase deficiency: immunological studies in a new patient","volume":"17","author":"Zeviani M","year":"1985","journal-title":"Ann NeuroI"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410170602","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410170602","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,26]],"date-time":"2023-09-26T23:10:24Z","timestamp":1695769824000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410170602"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1985,6]]},"references-count":112,"journal-issue":{"issue":"6","published-print":{"date-parts":[[1985,6]]}},"alternative-id":["10.1002\/ana.410170602"],"URL":"https:\/\/doi.org\/10.1002\/ana.410170602","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1985,6]]}}}