{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T10:18:03Z","timestamp":1760782683472},"reference-count":28,"publisher":"Wiley","issue":"7","license":[{"start":{"date-parts":[[2004,10,13]],"date-time":"2004-10-13T00:00:00Z","timestamp":1097625600000},"content-version":"vor","delay-in-days":3392,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1995,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a Japanese family with chronic progressive external ophthal\u2010moplegia (CPEO) with autosomal dominant inheritance, and review 54 reported CPEO patients in seven families (including the present family) with autosomal dominant inheritance and mtDNA deletions in the skeletal muscle. Mean age at onset in the CPEO was 26 years, which is older than that in published solitary cases. In addition to blepharoptosis and external ophthalmoplegia, proximal muscle atrophy and weakness were found in 62%, hearing loss in 25%, and ataxia in 17% of the patients. Retinal degeneration was not found, and cardiac involvement was very rare. mtDNA deletions in the muscle were multiple and large scale, and all such deletions were located in the non\u2013D\u2010loop region. Autosomal dominant CPEO has unique clinical features which differ from those of solitary CPEO, and is associated with multiple large\u2010scale mtDNA deletions. Thus, autosomal dominant CPEO can be considered a clinical and genetic entity of mitochondrial diseases. \u00a9 1995 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/mus.880180712","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T02:37:31Z","timestamp":1104547051000},"page":"753-760","source":"Crossref","is-referenced-by-count":26,"title":["Mitochondrial encephalomyopathy with autosomal dominant inheritance: A clinical and genetic entity of mitochondrial diseases"],"prefix":"10.1002","volume":"18","author":[{"given":"Hisaomi","family":"Kawai","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masashi","family":"Akaike","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Kenji","family":"Yokoi","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yoshihiko","family":"Nishida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Makoto","family":"Kunishige","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Hideki","family":"Mine","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shiro","family":"Saito","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2004,10,13]]},"reference":[{"key":"e_1_2_1_2_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1600-0404.1978.tb02856.x"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.35.6.802"},{"key":"e_1_2_1_4_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2434997"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.cb.07.110191.002321"},{"key":"e_1_2_1_6_2","first-page":"643","article-title":"Autosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomy\u2010opathy","volume":"48","author":"Cormier V","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410170602"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1993.00540110075008"},{"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":"10.1038\/352255a0"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_1_12_2","doi-asserted-by":"publisher","DOI":"10.1159\/000114820"},{"key":"e_1_2_1_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(89)91779-0"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1001\/archopht.1958.00940080296016"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(80)35262-7"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/13.5.1703"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.23.9509"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/0378-1119(86)90208-8"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_1_20_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(90)92079-F"},{"key":"e_1_2_1_21_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2448875"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.74.12.5463"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.7.1053"},{"key":"e_1_2_1_24_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-2836(75)80083-0"},{"key":"e_1_2_1_25_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115856"},{"key":"e_1_2_1_26_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/19.15.4291"},{"key":"e_1_2_1_27_2","doi-asserted-by":"crossref","first-page":"12772","DOI":"10.1016\/S0021-9258(18)42962-6","article-title":"Characterization of a rat liver mitochondrial DNA\u2010protein complex","volume":"256","author":"Van Tuyle GC","year":"1981","journal-title":"J Biol Chem"},{"key":"e_1_2_1_28_2","first-page":"904","article-title":"Nucleus\u2010driven multiple large\u2010scale deletions of the human mitochondrial genome: a new autosomal dominant disease","volume":"47","author":"Zeviani M","year":"1990","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_29_2","doi-asserted-by":"publisher","DOI":"10.1038\/339309a0"}],"container-title":["Muscle &amp; 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