{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T12:10:25Z","timestamp":1694779825824},"reference-count":19,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2004,5,31]],"date-time":"2004-05-31T00:00:00Z","timestamp":1085961600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:title>Summary<\/jats:title><jats:p>As for any non\u2010recombining genome, any mutation at mtDNA, if not recurrent, appears on a particular haplotype background, allowing its detection by haplogroup association studies. It has been shown that the propensity for occurrence of single macrodeletions at a level beyond the pathological threshold is associated with super\u2010haplogroup U\/K. However, in this report, we present evidence for the absence of preferential haplogroup backgrounds for single macrodeletions. We have analysed how haplogroup diagnostic polymorphisms could disrupt direct repeats usually flanking the deleted segment, and we have concluded that for the Common Deletion, no such polymorphisms are observed in humans, but they do occur in other primates. Furthermore, we also report five new single macrodeletions.<\/jats:p>","DOI":"10.1007\/s10545-005-0023-z","type":"journal-article","created":{"date-parts":[[2005,9,7]],"date-time":"2005-09-07T19:05:23Z","timestamp":1126119923000},"page":"769-778","source":"Crossref","is-referenced-by-count":3,"title":["mtDNA single macrodeletions associated with myopathies: Absence of haplogroup\u2010related increased risk"],"prefix":"10.1002","volume":"28","author":[{"given":"A.","family":"Goios","sequence":"first","affiliation":[{"name":"IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto)  Porto Portugal"},{"name":"Faculdade de Ci\u00eancias da Universidade do Porto  Porto Portugal"},{"name":"IPATIMUP  R. Dr. Roberto Frias, s\/n Porto 4200\u2010465 Portugal"}]},{"given":"C.","family":"Nogueira","sequence":"additional","affiliation":[{"name":"IGM (Instituto de Gen\u00e9tica M\u00e9dica)  Porto"}]},{"given":"C.","family":"Pereira","sequence":"additional","affiliation":[{"name":"IGM (Instituto de Gen\u00e9tica M\u00e9dica)  Porto"}]},{"given":"L.","family":"Vilarinho","sequence":"additional","affiliation":[{"name":"IGM (Instituto de Gen\u00e9tica M\u00e9dica)  Porto"}]},{"given":"A.","family":"Amorim","sequence":"additional","affiliation":[{"name":"IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto)  Porto Portugal"},{"name":"Faculdade de Ci\u00eancias da Universidade do Porto  Porto Portugal"}]},{"given":"L.","family":"Pereira","sequence":"additional","affiliation":[{"name":"IPATIMUP (Instituto de Patologia e Imunologia Molecular da Universidade do Porto)  Porto Portugal"}]}],"member":"311","published-online":{"date-parts":[[2004,5,31]]},"reference":[{"key":"e_1_2_1_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(04)16851-7"},{"key":"e_1_2_1_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5201056"},{"key":"e_1_2_1_4_1","doi-asserted-by":"publisher","DOI":"10.1086\/320591"},{"key":"e_1_2_1_5_1","doi-asserted-by":"publisher","DOI":"10.1086\/339933"},{"key":"e_1_2_1_6_1","doi-asserted-by":"publisher","DOI":"10.1042\/bj3181065"},{"key":"e_1_2_1_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/35047064"},{"key":"e_1_2_1_8_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/9.19.2821"},{"key":"e_1_2_1_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.10278"},{"key":"e_1_2_1_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-9525(97)01266-3"},{"key":"e_1_2_1_11_1","doi-asserted-by":"publisher","DOI":"10.1086\/302204"},{"key":"e_1_2_1_12_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(98)00082-3"},{"key":"e_1_2_1_13_1","doi-asserted-by":"publisher","DOI":"10.1007\/s00414-003-0424-1"},{"key":"e_1_2_1_14_1","doi-asserted-by":"crossref","unstructured":"PereiraL Gon\u00e7alvesJ GoiosA RochaT AmorimA(2005)Human mtDNA haplogroups and reduced male fertility: real association or hidden population substructuring.Int J Androl(in press)..","DOI":"10.1111\/j.1365-2605.2005.00539.x"},{"key":"e_1_2_1_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0002-9297(07)62954-1"},{"key":"e_1_2_1_16_1","doi-asserted-by":"publisher","DOI":"10.1093\/bioinformatics\/btg359"},{"key":"e_1_2_1_17_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.410390615"},{"key":"e_1_2_1_18_1","doi-asserted-by":"publisher","DOI":"10.1086\/373936"},{"key":"e_1_2_1_19_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0378-1119(99)00295-4"},{"key":"e_1_2_1_20_1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkh634"}],"container-title":["Journal of Inherited Metabolic Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0023-z","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1007\/s10545-005-0023-z","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,9,15]],"date-time":"2023-09-15T01:11:48Z","timestamp":1694740308000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1007\/s10545-005-0023-z"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2004,5,31]]},"references-count":19,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["10.1007\/s10545-005-0023-z"],"URL":"https:\/\/doi.org\/10.1007\/s10545-005-0023-z","archive":["Portico"],"relation":{},"ISSN":["0141-8955","1573-2665"],"issn-type":[{"value":"0141-8955","type":"print"},{"value":"1573-2665","type":"electronic"}],"subject":[],"published":{"date-parts":[[2004,5,31]]}}}