{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,30]],"date-time":"2025-09-30T10:07:21Z","timestamp":1759226841817},"reference-count":22,"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":3757,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[1994,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We used Southern blot analysis and the polymerase chain reaction to analyze the tissue distribution of multiple mitochondrial DNA (mtDNA) deletions in a 45\u2010year\u2010old man with familial mitochondrial myopathy. Southern blots showed two major types of abnormal mtDNA with approximately 4\u2010 and 8\u2010kilobase deletions in the skeletal and extraocular muscles. The amount of muscle mtDNA with deletions correlated approximately with the severity of muscle involvement. The polymerase chain reaction showed multiple mtDNA deletions even in clinically asymptomatic tissues, the pattern of which differed with the type of tissue. Nucleotide sequences of several mtDNAs with deletions showed that the deletions were flanked by direct repeats consisting of 3 to 12 nucleotides. Leukocytes from the patient's affected sister and his mother exhibited the same mtDNA deletion pattern. Most of the same deletions were present in leukocytes obtained from the patient's father. \u00a9 1994 John Wiley &amp; Sons, Inc.<\/jats:p>","DOI":"10.1002\/mus.880170707","type":"journal-article","created":{"date-parts":[[2005,1,1]],"date-time":"2005-01-01T03:15:14Z","timestamp":1104549314000},"page":"741-746","source":"Crossref","is-referenced-by-count":16,"title":["Widespread tissue distribution of multiple mitochondrial DNA deletions in familial mitochondrial myopathy"],"prefix":"10.1002","volume":"17","author":[{"given":"Shingo","family":"Kawashima","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Shigeo","family":"Ohta","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yasuo","family":"Kagawa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mitsuo","family":"Yoshida","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Masatoyo","family":"Nishizawa","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":"10.1038\/290457a0"},{"key":"e_1_2_1_3_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.1.103"},{"key":"e_1_2_1_4_2","first-page":"643","article-title":"Aulosomal dominant deletions of the mitochondrial genome in a case of progressive encephalomyopathy","volume":"48","author":"Cormier V","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/331717a0"},{"key":"e_1_2_1_6_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.20.8059"},{"key":"e_1_2_1_7_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/18.3.561"},{"key":"e_1_2_1_8_2","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_1_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410290406"},{"key":"e_1_2_1_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(90)92079-F"},{"key":"e_1_2_1_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(88)90272-0"},{"key":"e_1_2_1_12_2","first-page":"649","article-title":"Germ\u2010line deletions of mtDNA in mitochondrial myopathy","volume":"48","author":"Poulton J","year":"1991","journal-title":"Am J Hum Genet"},{"key":"e_1_2_1_13_2","first-page":"902","article-title":"Mitochondrial DNA deletion in Pearson's marrow\/pancreas syndrome","volume":"1","author":"Rolig A","year":"1989","journal-title":"Lancet"},{"key":"e_1_2_1_14_2","doi-asserted-by":"publisher","DOI":"10.1126\/science.2711184"},{"key":"e_1_2_1_15_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.41.7.1053"},{"key":"e_1_2_1_16_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.40.1.24"},{"key":"e_1_2_1_17_2","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.86.20.7952"},{"key":"e_1_2_1_18_2","doi-asserted-by":"publisher","DOI":"10.1172\/JCI115856"},{"key":"e_1_2_1_19_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(89)91818-4"},{"key":"e_1_2_1_20_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_21_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410280118"},{"key":"e_1_2_1_22_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.38.8.1339"},{"key":"e_1_2_1_23_2","doi-asserted-by":"publisher","DOI":"10.1038\/339309a0"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.880170707","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.880170707","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,27]],"date-time":"2023-09-27T22:35:00Z","timestamp":1695854100000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.880170707"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[1994,7]]},"references-count":22,"journal-issue":{"issue":"7","published-print":{"date-parts":[[1994,7]]}},"alternative-id":["10.1002\/mus.880170707"],"URL":"https:\/\/doi.org\/10.1002\/mus.880170707","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[1994,7]]}}}