{"entities":{"Q97287":{"pageid":87680,"ns":120,"title":"Item:Q97287","lastrevid":550249,"modified":"2026-08-16T13:23:17Z","type":"item","id":"Q97287","labels":{"mul":{"language":"mul","value":"ID_1564733568"},"pt-br":{"language":"pt-br","value":"Oftalmoplegia externa progressiva, autoss\u00f4mica dominante, tipo 5"},"en":{"language":"en","value":"Progressive external ophthalmoplegia, autosomal dominant, type 5"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Oftalmoplegia externa progressiva autoss\u00f4mica dominante com dele\u00e7\u00f5es-5 do DNA mitocondrial (PEOA5) \u00e9 causada pela muta\u00e7\u00e3o heterozig\u00f3tica no gene RRM2B (604712) no cromossomo 8q13. Pacientes t\u00eam oftalmoplegia externa progressiva com manifesta\u00e7\u00f5es adicionais vari\u00e1veis incluindo ptose, fadiga, disfagia, miopatia proximal, disartria, ataxia, sintomas gastrointestinais e diabetes. Bi\u00f3psia de m\u00fasculo esquel\u00e9tico mostra um defeito tipo mosaico da atividade da citocromo c oxidase e m\u00faltiplas dele\u00e7\u00f5es de DNA mitocondrial."},"en":{"language":"en","value":"Autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions-5 (PEOA5) is caused by heterozygous mutation in the nuclear-encoded RRM2B gene (604712) on chromosome 8q23.1. Patients had progressive external ophthalmoplegia with variable additional features, including ptosis, fatigue, dysphagia, proximal myopathy, dysarthria, ataxia, gastrointestinal symptoms, and diabetes. Skeletal muscle biopsy shows a mosaic defect of Cytochrome c oxidase activity and multiple mitochondrial DNA deletions."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"fcd35178404a78c960974475479d6c7981729007","datavalue":{"value":"https://id.who.int/icd/entity/1564733568","type":"string"},"datatype":"url"},"type":"statement","id":"Q97287$55ECB4F5-5DE5-4BAC-8CD5-7F9E3481DC42","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"6f4ec95c698b78daa529693800b135fa095428bc","datavalue":{"value":"CID11:ID_1564733568","type":"string"},"datatype":"string"},"type":"statement","id":"Q97287$DB559D64-92D2-4726-A8A4-C1ECA1E1186C","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"905e7f0a04748051a288d2834ec1dac5616ee02e","datavalue":{"value":"dki-india-ID_1564733568","type":"string"},"datatype":"string"},"type":"statement","id":"Q97287$9FEA5C47-04EC-43B5-BBE7-737B1C781731","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q97287$A0635EE6-FE10-477C-9923-B609A1FA812B","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q97287$6C02AC67-C4D4-43EE-8E1E-2D6B1266214B","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"378ac503ed43f21e1f461d2823a6ad59da580514","datavalue":{"value":{"time":"+2026-08-15T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q97287$DF74D0FC-877C-47C3-990F-67C1AA614B73","rank":"normal"}]},"sitelinks":{}}}}