{"entities":{"Q41403":{"pageid":31771,"ns":120,"title":"Item:Q41403","lastrevid":137859,"modified":"2026-08-13T07:33:46Z","type":"item","id":"Q41403","labels":{"mul":{"language":"mul","value":"8C73.0"},"pt-br":{"language":"pt-br","value":"Cardiomiopatia autoss\u00f4mica recessiva ou oftalmoplegia"},"en":{"language":"en","value":"Autosomal recessive cardiomyopathy or ophthalmoplegia"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A cardiomiopatia autoss\u00f4mica recessiva e oftalmoplegia \u00e9 uma doen\u00e7a de in\u00edcio na inf\u00e2ncia caracterizada por oftalmoplegia externa progressiva, fraqueza leve facial e dos membros proximais e cardiomiopatia grave. As bi\u00f3psias musculares s\u00e3o negativas para fibras vermelhas rotas e para a citocromo C oxidase; as atividades de v\u00e1rios complexos na cadeia de transporte de el\u00e9trons est\u00e3o diminu\u00eddas. Acredita-se que a combina\u00e7\u00e3o de oftalmoplegia externa progressiva, cardiomiopatia e m\u00faltiplas dele\u00e7\u00f5es de DNAmt sejam decorrentes de um defeito de comunica\u00e7\u00e3o entre os genomas nuclear e mitocondrial."},"en":{"language":"en","value":"Autosomal recessive cardiomyopathy and ophthalmoplegia is a childhood-onset disease characterised by progressive external ophthalmoplegia, mild facial and proximal limb weakness, and severe cardiomyopathy. Muscle biopsies show ragged-red and cytochrome C oxidase-negative fibres; the activities of several complexes in the electron-transport chain are decreased. The combination of progressive external ophthalmoplegia, cardiomyopathy, and multiple mtDNA deletions is thought to be due to a defect of communication between the nuclear and mitochondrial genomes."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"bd456fe38d218b27b002054f1519fc5850a301e1","datavalue":{"value":"https://id.who.int/icd/entity/607844076","type":"string"},"datatype":"url"},"type":"statement","id":"Q41403$877D1734-8973-48D7-BD7F-8B99248A5CBD","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"aabe53fa30e7ad500022c23872e9271d3e7fee91","datavalue":{"value":"CID11:8C73.0","type":"string"},"datatype":"string"},"type":"statement","id":"Q41403$9BB15B7F-B3FC-4D66-A005-063EBD72C230","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"171cfe5f0fa7e2648d7814d952fe46ce3a5b9264","datavalue":{"value":"dki-india-8C73.0","type":"string"},"datatype":"string"},"type":"statement","id":"Q41403$44ED1079-0E62-45C3-BD07-D8D4F0C23D32","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q41403$DCEE43C6-BB94-4D13-A8A2-D121F93D8555","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":"Q41403$6B427D59-E6BA-4E49-A64C-9115211C3B84","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"92b8222fcbb75718504f915073a3f43bd4003d18","datavalue":{"value":{"time":"+2026-08-13T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q41403$640FC6EE-DF8E-49EA-857F-99593291B408","rank":"normal"}],"P89":[{"mainsnak":{"snaktype":"value","property":"P89","hash":"df983397ebb447ca37f61e51be0be733f50c73a5","datavalue":{"value":{"entity-type":"item","numeric-id":17307,"id":"Q17307"},"type":"wikibase-entityid"},"datatype":"wikibase-item"},"type":"statement","id":"Q41403$D724C0E6-C6A1-4D89-8FA9-23EDBEC54673","rank":"normal"}]},"sitelinks":{}}}}