{"entities":{"Q95624":{"pageid":86017,"ns":120,"title":"Item:Q95624","lastrevid":538247,"modified":"2026-08-16T11:26:32Z","type":"item","id":"Q95624","labels":{"mul":{"language":"mul","value":"ID_2001702410"},"pt-br":{"language":"pt-br","value":"Miopatia mitocondrial com defici\u00eancia de citocromo C oxidase, forma infantil grave"},"en":{"language":"en","value":"Mitochondrial myopathy with cytochrome C oxidase deficiency, severe infantile form"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Miopatia por defici\u00eancia de citocromo c oxidase que se apresenta logo ap\u00f3s o nascimento com fraqueza generalizada grave, dificuldade respirat\u00f3ria e acidose l\u00e1ctica. Crian\u00e7as com miopatia infantil fatal t\u00eam um curso implac\u00e1vel em declive e morrem de insufici\u00eancia respirat\u00f3ria antes de 1 ano de idade. Embora o cora\u00e7\u00e3o, o f\u00edgado e o c\u00e9rebro sejam clinicamente poupados, muitos pacientes t\u00eam doen\u00e7a renal com glicos\u00faria, fosfat\u00faria e aminoacid\u00faria generalizada (s\u00edndrome de De Toni-Fanconi). A an\u00e1lise de linhagem sugere transmiss\u00e3o autoss\u00f4mica recessiva."},"en":{"language":"en","value":"Cytochrome c oxidase deficiency myopathy presenting soon after birth with severe generalised weakness, respiratory distress, and lactic acidosis. Children with fatal infantile myopathy have a relentlessly downhill course and die of respiratory failure before 1 year of age. Although heart, liver, and brain are clinically spared, many patients have renal disease with glycosuria, phosphaturia, and generalised aminoaciduria (De Toni-Fanconi syndrome). Pedigree analysis suggests autosomal recessive transmission."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"bf592006f5db90275dc19270494277a3b8cf2ffd","datavalue":{"value":"https://id.who.int/icd/entity/2001702410","type":"string"},"datatype":"url"},"type":"statement","id":"Q95624$B12AA774-EE6A-4F7D-B366-15F05E80AA74","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"f8150dda3b0ccc9ed99d72172ff7c0158aed7863","datavalue":{"value":"CID11:ID_2001702410","type":"string"},"datatype":"string"},"type":"statement","id":"Q95624$160B95D4-177C-4BC4-A40F-A999A922A9FE","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"56c0b6541b6f6fff1ed3dee2a320a6bd08fa331d","datavalue":{"value":"dki-india-ID_2001702410","type":"string"},"datatype":"string"},"type":"statement","id":"Q95624$029B840B-15F0-4888-8AAD-9420383D0E38","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q95624$DADE2E03-63E7-4DCA-A023-A3628FD2EAEF","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":"Q95624$2BA080D1-ADDB-4074-9180-6A65AA9200B2","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":"Q95624$5102BAE5-E44E-4DA6-89FA-756EE96FDF78","rank":"normal"}]},"sitelinks":{}}}}