{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,10]],"date-time":"2026-06-10T08:49:15Z","timestamp":1781081355144,"version":"3.54.1"},"reference-count":22,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2004,10,7]],"date-time":"2004-10-07T00:00:00Z","timestamp":1097107200000},"content-version":"vor","delay-in-days":7738,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Annals of Neurology"],"published-print":{"date-parts":[[1983,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>A 2\u2010week\u2010old boy had profound generalized weakness, hypotonia, hyporeflexia, macroglossia, and severe lactic acidosis. The infant improved spontaneously: he held his head at 4 1\/2 months, rolled over at 7 months, and walked by 16 months. At 33 month of age, he had mild proximal weakness. Macroglossia disappeared by age 4 months. Blood lactic acid declined steadily and was normal by 14 months of age. Histochemical and ultrastructural studies of muscle biopsy specimens obtained at 1 and 7 months of age showed excessive mitochondria, lipid, and glycogen; a third biopsy at age 36 months showed only atrophy of scattered fibers. Cytochrome c oxidase stain was positive in fewer than 5% of fibers in the first biopsy, in approximately 60% of fibers in the second biopsy, and in all fibers in the third biopsy. Biochemical analysis showed an isolated defect of cytochrome c oxidase activity, which was only 8% of the lowest control level in the first biopsy; the activity increased to 47% in the second biopsy and was higher than normal in the third. In contrast to that in the fatal infantile form of cytochrome c oxidase deficiency, the enzyme defect in this condition is reversible. The biochemical basis for this difference remains to be explained.<\/jats:p>","DOI":"10.1002\/ana.410140209","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T13:50:41Z","timestamp":1104587441000},"page":"226-234","source":"Crossref","is-referenced-by-count":180,"title":["Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency"],"prefix":"10.1002","volume":"14","author":[{"given":"Salvatore","family":"Dimauro","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John F.","family":"Nicholson","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Arthur P.","family":"Hays","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Abraham B.","family":"B","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alexandros","family":"Papadimitriou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard","family":"Koenigsberger","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":"10.1007\/BF00423100"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/0098-2997(80)90005-9"},{"key":"e_1_2_1_4_2","first-page":"175","volume-title":"Handbook of Clinical Neurology","author":"DiMauro S","year":"1979"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410050504"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.30.8.795"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880020312"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(78)92764-2"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.77.11.6715"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi00551a003"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.32.8.898"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1973.00490270044007"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/0304-4173(79)90003-X"},{"key":"e_1_2_1_14_2","doi-asserted-by":"crossref","first-page":"2193","DOI":"10.1016\/S0021-9258(18)97445-4","article-title":"The distribution of carnitine, acetylcarnitine, and carnitine acetyltransferase in rat tissues","volume":"240","author":"Marquis NR","year":"1965","journal-title":"J Biol Chem"},{"key":"e_1_2_1_15_2","first-page":"515","volume-title":"Muscle Development: Molecular and Cellular Control","author":"Miranda AF","year":"1982"},{"key":"e_1_2_1_16_2","first-page":"1","volume-title":"Recent Advances in Clinical Neurology","author":"Morgan\u2010Hughes JA","year":"1982"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1016\/0014-5793(79)81328-9"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.38.1.1"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.32.2.415"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(69)13005-0"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01799812"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1203\/00006450-197711100-00005"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1016\/0076-6879(67)10048-7"}],"container-title":["Annals of Neurology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fana.410140209","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ana.410140209","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,20]],"date-time":"2023-10-20T08:57:02Z","timestamp":1697792222000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ana.410140209"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1983,8]]},"references-count":22,"journal-issue":{"issue":"2","published-print":{"date-parts":[[1983,8]]}},"alternative-id":["10.1002\/ana.410140209"],"URL":"https:\/\/doi.org\/10.1002\/ana.410140209","archive":["Portico"],"relation":{},"ISSN":["0364-5134","1531-8249"],"issn-type":[{"value":"0364-5134","type":"print"},{"value":"1531-8249","type":"electronic"}],"subject":[],"published":{"date-parts":[[1983,8]]}}}