{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,2,12]],"date-time":"2026-02-12T12:52:55Z","timestamp":1770900775696,"version":"3.50.1"},"reference-count":19,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2003,8,7]],"date-time":"2003-08-07T00:00:00Z","timestamp":1060214400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2004,2]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Spasticity and dystonia have been associated with mitochondrial (mt) DNA mutations at A11696G, G14459A, and T14596A. We describe the clinical features and molecular analysis of two Caucasian pedigrees with the 14,459 guanosine (G)\u2009\u2192\u2009adenine (A) transition. The maternally inherited Leber hereditary optic neuropathy (LHON) phenotypes showed extreme clinical variability and the only screening test that was abnormal in the patient with spasticity\/dystonia was a high T2 signal in the putamen bilaterally. The male patient in the second pedigree showed features of optic neuropathy without spasticity\/dystonia. These results further support that the 14,459 G\u2009\u2192\u2009A transition mutation is causally related to LHON and spasticity\/dystonia. \u00a9 2003 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.20449","type":"journal-article","created":{"date-parts":[[2004,1,16]],"date-time":"2004-01-16T09:00:32Z","timestamp":1074243632000},"page":"372-376","source":"Crossref","is-referenced-by-count":46,"title":["Clinical variability in maternally inherited leber hereditary optic neuropathy with the G14459A mutation"],"prefix":"10.1002","volume":"124A","author":[{"given":"Mark A.","family":"Tarnopolsky","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Steven K.","family":"Baker","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tomoko","family":"Myint","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"C.E.","family":"Maxner","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.","family":"Robitaille","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Brian H.","family":"Robinson","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2003,8,7]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/1096-8628(20011215)104:4<331::AID-AJMG10054>3.0.CO;2-W"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-001-0660-8"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0925-4439(02)00097-2"},{"issue":"4","key":"e_1_2_7_5_1","first-page":"703","article-title":"Genetic and biochemical impairment of mitochondrial complex I activity in a family with Leber hereditary optic neuropathy and hereditary spastic dystonia","volume":"58","author":"De Vries DD","year":"1996","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0006-291X(02)00672-1"},{"issue":"4","key":"e_1_2_7_7_1","first-page":"584","article-title":"Abnormal kinetic behavior of cytochrome oxidase in a case of Leigh disease","volume":"41","author":"Glerum M","year":"1987","journal-title":"Am J Hum Genet"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/0166-2236(91)90081-5"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880181417"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0161-6420(93)31527-7"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.91.13.6206"},{"issue":"3","key":"e_1_2_7_12_1","doi-asserted-by":"crossref","first-page":"771","DOI":"10.1128\/MCB.16.3.771","article-title":"Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA\u2010encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia","volume":"16","author":"Jun AS","year":"1996","journal-title":"Mol Cell Biol"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/123.9.1896"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.58.12.1861"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1172\/JCI111484"},{"key":"e_1_2_7_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00056-1"},{"key":"e_1_2_7_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410380207"},{"key":"e_1_2_7_18_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.53.8.1787"},{"key":"e_1_2_7_19_1","doi-asserted-by":"publisher","DOI":"10.1126\/science.3201231"},{"key":"e_1_2_7_20_1","doi-asserted-by":"publisher","DOI":"10.1136\/bjo.86.9.1027"}],"container-title":["American Journal of Medical Genetics Part A"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.a.20449","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.20449","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,16]],"date-time":"2023-10-16T08:21:10Z","timestamp":1697444470000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.20449"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2003,8,7]]},"references-count":19,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2004,2]]}},"alternative-id":["10.1002\/ajmg.a.20449"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.20449","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2003,8,7]]}}}