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We report the clinical and pathological findings in two siblings in whom the 4977 base pair mitochondrial DNA deletion was identified in muscle\u2010derived mitochondrial DNA. One sibling manifested early onset liver and renal failure, and both developed prominent peripheral sensorimotor neuropathy. These clinical findings have not been previously described in association with the 4977bp mtDNA deletion and thus represent a further expansion of the spectrum of mitochondrial disease. \u00a9 2002 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.10522","type":"journal-article","created":{"date-parts":[[2002,10,6]],"date-time":"2002-10-06T11:56:23Z","timestamp":1033905383000},"page":"191-194","source":"Crossref","is-referenced-by-count":19,"title":["Familial childhood onset neuropathy and cirrhosis with the 4977bp mitochondrial DNA deletion"],"prefix":"10.1002","volume":"111","author":[{"given":"D.G.M.","family":"McDonald","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"J.B.","family":"McMenamin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"M.A.","family":"Farrell","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"O.","family":"Droogan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.J.","family":"Green","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2002,6,19]]},"reference":[{"key":"e_1_2_4_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)80135-1"},{"key":"e_1_2_4_3_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004310050902"},{"key":"e_1_2_4_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000190188"},{"key":"e_1_2_4_5_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80033-6"},{"key":"e_1_2_4_6_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(99)00072-3"},{"key":"e_1_2_4_7_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-510X(96)00032-9"},{"key":"e_1_2_4_8_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80020-8"},{"key":"e_1_2_4_9_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(97)80027-3"},{"key":"e_1_2_4_10_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0168-8278(99)80019-1"},{"key":"e_1_2_4_11_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.49.1.239"},{"key":"e_1_2_4_12_1","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19970905)71:4<443::AID-AJMG14>3.0.CO;2-G"},{"key":"e_1_2_4_13_1","doi-asserted-by":"publisher","DOI":"10.1002\/hep.1840210612"},{"key":"e_1_2_4_14_1","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.5.1495"},{"key":"e_1_2_4_15_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(99)05225-3"},{"key":"e_1_2_4_16_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(88)91632-7"},{"key":"e_1_2_4_17_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(96)80134-X"},{"key":"e_1_2_4_18_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0022-3476(05)80335-X"},{"key":"e_1_2_4_19_1","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM198905183202001"},{"key":"e_1_2_4_20_1","doi-asserted-by":"publisher","DOI":"10.1016\/0888-7543(91)90342-C"},{"key":"e_1_2_4_21_1","first-page":"42","article-title":"Oxidative phosphorylation disorders and cerebellar ataxia","volume":"3","author":"Shoffner JM","year":"1995","journal-title":"Clin Neurosci"},{"key":"e_1_2_4_22_1","doi-asserted-by":"publisher","DOI":"10.1016\/S0027-5107(97)00076-6"}],"container-title":["American Journal of Medical Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fajmg.10522","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/ajmg.10522","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,18]],"date-time":"2023-10-18T13:15:14Z","timestamp":1697634914000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/ajmg.10522"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2002,6,19]]},"references-count":21,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2002,8]]}},"alternative-id":["10.1002\/ajmg.10522"],"URL":"https:\/\/doi.org\/10.1002\/ajmg.10522","archive":["Portico"],"relation":{},"ISSN":["0148-7299","1096-8628"],"issn-type":[{"value":"0148-7299","type":"print"},{"value":"1096-8628","type":"electronic"}],"subject":[],"published":{"date-parts":[[2002,6,19]]}}}