{"entities":{"Q95631":{"pageid":86024,"ns":120,"title":"Item:Q95631","lastrevid":538299,"modified":"2026-08-16T11:26:59Z","type":"item","id":"Q95631","labels":{"mul":{"language":"mul","value":"ID_1630114989"},"pt-br":{"language":"pt-br","value":"Epilepsia Miocl\u00f4nica com Fibras Vermelhas Rotas"},"en":{"language":"en","value":"Myoclonic epilepsy, ragged red fibres"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A epilepsia miocl\u00f4nica associada a fibras vermelhas rotas (MERRF) \u00e9 uma doen\u00e7a mitocondrial rara. As manifesta\u00e7\u00f5es t\u00edpicas da doen\u00e7a s\u00e3o mioclonia, epilepsia generalizada, ataxia cerebelar e fibras vermelhas irregulares na bi\u00f3psia muscular. Muta\u00e7\u00f5es de ponto no gene RNAt Lisina do DNA mitocondrial, principalmente A8344G, s\u00e3o respons\u00e1veis \u200b\u200bpor quase 90% dos casos de MERRF. As altera\u00e7\u00f5es morfol\u00f3gicas observadas na bi\u00f3psia muscular incluem uma propor\u00e7\u00e3o significativa de fibras vermelhas rasgadas, fibras musculares mostrando uma atividade deficiente da citocromo c oxidase e a presen\u00e7a de vasos com uma forte rea\u00e7\u00e3o para succinato desidrogenase e defici\u00eancia da citocromo c oxidase."},"en":{"language":"en","value":"Myoclonic epilepsy associated with ragged red fibres (MERRF) is a rare mitochondrial disorder. Typical manifestations of the disease are myoclonus, generalised epilepsy, cerebellar ataxia and ragged red fibres on muscle biopsy. Point mutations in the tRNA Lys gene of the mitochondrial DNA, mainly A8344G, are responsible for almost 90% of MERRF cases. Morphological changes seen upon muscle biopsy include a substantive proportion of ragged red fibres, muscle fibres showing a deficient activity of Cytochrome c oxidase and the presence of vessels with a strong reaction for succinate dehydrogenase and Cytochrome c oxidase deficiency."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"0c2b548ab469e8c7dc2715b0fc6ff6771f077816","datavalue":{"value":"https://id.who.int/icd/entity/1630114989","type":"string"},"datatype":"url"},"type":"statement","id":"Q95631$0EB3DE99-FA3D-4ADC-BD45-7FF1BD4408C9","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"76eb0ad53e750cbb94856190d14dd840a5d700c1","datavalue":{"value":"CID11:ID_1630114989","type":"string"},"datatype":"string"},"type":"statement","id":"Q95631$4D5C097A-13C6-4F7F-B8E9-FB7D72B42C96","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"b02f8b88b5f48a9054a627b729803d731c5b9324","datavalue":{"value":"dki-india-ID_1630114989","type":"string"},"datatype":"string"},"type":"statement","id":"Q95631$A7179ABE-8871-43B2-9520-25426642F269","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q95631$8D09833E-08A6-4F6E-8417-8CD942DF6CCC","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":"Q95631$7369321F-86F4-48B2-9386-C676A0E04891","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":"Q95631$56F1C241-0A1C-4F76-85A3-A44BE20C1C59","rank":"normal"}]},"sitelinks":{}}}}