{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T06:44:42Z","timestamp":1791960282993,"version":"4.3.4"},"reference-count":21,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2005,3,28]],"date-time":"2005-03-28T00:00:00Z","timestamp":1111968000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2005,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We describe a patient with chronic progressive external ophthalmoplegia (CPEO) who underwent muscle biopsy for suspected mitochondrial disease. In spite of normal histocytochemical cytochrome <jats:italic>c<\/jats:italic> oxidase (COX) activity and respiratory chain enzyme measurements in muscle, subsequent molecular genetic analysis revealed the presence of a single, large\u2010scale deletion of mitochondrial DNA (mtDNA). The case serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings. Muscle Nerve, 2005<\/jats:p>","DOI":"10.1002\/mus.20319","type":"journal-article","created":{"date-parts":[[2005,3,28]],"date-time":"2005-03-28T22:46:29Z","timestamp":1112049989000},"page":"104-107","source":"Crossref","is-referenced-by-count":21,"title":["Ophthalmoplegia due to mitochondrial DNA disease: The need for genetic diagnosis"],"prefix":"10.1002","volume":"32","author":[{"given":"Andrew M.","family":"Schaefer","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emma L.","family":"Blakely","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Philip G.","family":"Griffiths","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Douglass M.","family":"Turnbull","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Robert W.","family":"Taylor","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2005,3,28]]},"reference":[{"key":"e_1_2_6_2_2","doi-asserted-by":"publisher","DOI":"10.1038\/290457a0"},{"key":"e_1_2_6_3_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.011296"},{"key":"e_1_2_6_4_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.4.1166"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(200008)48:2<188::AID-ANA8>3.0.CO;2-P"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJMra022567"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0022-510X(83)90125-9"},{"key":"e_1_2_6_9_2","volume-title":"The neurology of eye movements","author":"Leigh RJ","year":"1999"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(02)00159-X"},{"key":"e_1_2_6_11_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0960-8966(93)90040-Q"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF01753355"},{"key":"e_1_2_6_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/sj.eye.6701488"},{"key":"e_1_2_6_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.tig.2004.07.003"},{"key":"e_1_2_6_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.1.13"},{"key":"e_1_2_6_17_2","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1379"},{"key":"e_1_2_6_18_2","first-page":"341","volume-title":"Organelle diseases","author":"Taylor RW","year":"1997"},{"key":"e_1_2_6_19_2","doi-asserted-by":"publisher","DOI":"10.1006\/bbrc.1997.8055"},{"key":"e_1_2_6_20_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/29.15.e74"},{"key":"e_1_2_6_21_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2003.12.004"},{"key":"e_1_2_6_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00216-X"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.20319","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.20319","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,9]],"date-time":"2023-10-09T19:36:39Z","timestamp":1696880199000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.20319"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,3,28]]},"references-count":21,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2005,7]]}},"alternative-id":["10.1002\/mus.20319"],"URL":"https:\/\/doi.org\/10.1002\/mus.20319","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,3,28]]}}}