{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,31]],"date-time":"2026-08-31T12:17:33Z","timestamp":1788178653382,"version":"build-2803163510"},"reference-count":12,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2002,1,28]],"date-time":"2002-01-28T00:00:00Z","timestamp":1012176000000},"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":[[2002,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>We report a patient with progressive external ophthalmoplegia (PEO), exercise intolerance, and deafness after aminoglycoside exposure, harboring two pathogenic mutations in her mtDNA: an A1555G in the 12S rRNA gene and a G4309A in the tRNA<jats:sup>Ile<\/jats:sup> gene. Muscle histochemistry showed abundant ragged\u2010red fibers, and biochemistry revealed normal respiratory chain function. The A1555G mutation was homoplasmic in blood from the proband and from all maternal relatives. The G4309A mutation was abundant in the proband\u2032s muscle, less abundant in her blood, still less abundant in the mother\u2032s blood, and absent in blood from other maternal relatives. Family members were asymptomatic. Our data suggest that the former mutation resulted in aminoglycoside\u2010induced deafness and the latter caused PEO plus exercise intolerance. \u00a9 2002 John Wiley &amp; Sons, Inc. Muscle Nerve 25: 185\u2013188, 2002 DOI 10.1002\/mus.10012<\/jats:p>","DOI":"10.1002\/mus.10012","type":"journal-article","created":{"date-parts":[[2004,10,25]],"date-time":"2004-10-25T16:06:55Z","timestamp":1098720415000},"page":"185-188","source":"Crossref","is-referenced-by-count":16,"title":["Cosegregation of the mitochondrial DNA A1555G and G4309A mutations results in deafness and mitochondrial myopathy"],"prefix":"10.1002","volume":"25","author":[{"given":"Y.","family":"Campos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Garc\u00eda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"L\u00f3pez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.C.","family":"Rubio","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Del Hoyo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Bustos","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.A.","family":"Mart\u00edn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Cabello","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.R.","family":"Ricoy","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Arenas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2002,1,28]]},"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":"10.1111\/j.1750-3639.2000.tb00275.x"},{"key":"e_1_2_6_4_2","first-page":"201","volume-title":"The molecular and genetic basis of neurological diseases","author":"DiMauro S","year":"1997"},{"key":"e_1_2_6_5_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:4<261::AID-HUMU1>3.0.CO;2-W"},{"key":"e_1_2_6_6_2","doi-asserted-by":"publisher","DOI":"10.1007\/s004150050283"},{"key":"e_1_2_6_7_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0793-289"},{"key":"e_1_2_6_8_2","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/26.4.967"},{"key":"e_1_2_6_9_2","doi-asserted-by":"publisher","DOI":"10.1023\/A:1022685929755"},{"key":"e_1_2_6_10_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0076-6879(96)64045-2"},{"key":"e_1_2_6_11_2","first-page":"13","article-title":"Mitochondrial encephalomyopathies: gene mutation","volume":"8","author":"Servidei S","year":"2000","journal-title":"Neuromusc Disord"},{"key":"e_1_2_6_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/0006-291X(91)91900-W"},{"key":"e_1_2_6_13_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/4.8.1421"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.10012","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.10012","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1002\/mus.10012","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.10012","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,8,28]],"date-time":"2023-08-28T08:22:13Z","timestamp":1693210933000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.10012"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,1,28]]},"references-count":12,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,2]]}},"alternative-id":["10.1002\/mus.10012"],"URL":"https:\/\/doi.org\/10.1002\/mus.10012","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,1,28]]}}}