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The authors postulated a distinct X\u2010linked mental retardation syndrome. Later on a similar phenotype was observed in three male siblings with an early lethal outcome. Here we describe three patients with several overlapping features and a progressive neurological picture presenting with a significantly compromised mitochondrial oxidative phosphorylation measured in a fresh muscle biopsy. Neurological deterioration is a commonly observed feature in mitochondrial disorders. Based on the unique combination of the clinical symptoms, we suggest that our patients have the Brooks\u2013Wisniewski\u2013Brown syndrome. \u00a9 2006 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.31117","type":"journal-article","created":{"date-parts":[[2006,2,14]],"date-time":"2006-02-14T00:16:49Z","timestamp":1139876209000},"page":"752-756","source":"Crossref","is-referenced-by-count":4,"title":["Mitochondrial dysfunction in Brooks\u2013Wisniewski\u2013Brown syndrome"],"prefix":"10.1002","volume":"140A","author":[{"given":"Eva","family":"Morava","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Richard","family":"Rodenburg","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Frans","family":"Hol","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Linda","family":"De Meirleir","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sara","family":"Seneca","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rebekka","family":"Busch","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lambert","family":"van den Heuvel","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jan","family":"Smeitink","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2006,2,13]]},"reference":[{"key":"e_1_2_7_2_1","doi-asserted-by":"publisher","DOI":"10.1083\/jcb.200304112"},{"key":"e_1_2_7_3_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.47.1.243"},{"key":"e_1_2_7_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320510458"},{"key":"e_1_2_7_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0092-8674(00)81203-9"},{"key":"e_1_2_7_6_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2003.012047"},{"key":"e_1_2_7_7_1","doi-asserted-by":"publisher","DOI":"10.1023\/B:BOLI.0000005659.52200.c1"},{"key":"e_1_2_7_8_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320450527"},{"key":"e_1_2_7_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(02)00159-X"},{"key":"e_1_2_7_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19960712)64:1<59::AID-AJMG8>3.0.CO;2-M"},{"key":"e_1_2_7_11_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320380206"},{"key":"e_1_2_7_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320170125"},{"key":"e_1_2_7_13_1","doi-asserted-by":"publisher","DOI":"10.1016\/0887-8994(94)90107-4"},{"key":"e_1_2_7_14_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1010743321800"},{"key":"e_1_2_7_15_1","doi-asserted-by":"publisher","DOI":"10.1212\/01.WNL.0000031795.91814.D8"}],"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.31117","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.a.31117","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T06:09:14Z","timestamp":1697609354000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.a.31117"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,2,13]]},"references-count":14,"journal-issue":{"issue":"7","published-print":{"date-parts":[[2006,4]]}},"alternative-id":["10.1002\/ajmg.a.31117"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.a.31117","archive":["Portico"],"relation":{},"ISSN":["1552-4825","1552-4833"],"issn-type":[{"value":"1552-4825","type":"print"},{"value":"1552-4833","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,2,13]]}}}