{"entities":{"Q106079":{"pageid":96476,"ns":120,"title":"Item:Q106079","lastrevid":613715,"modified":"2026-08-17T12:52:05Z","type":"item","id":"Q106079","labels":{"mul":{"language":"mul","value":"ID_141365898"},"pt-br":{"language":"pt-br","value":"Miopatia mitocondrial pura"},"en":{"language":"en","value":"Pure mitochondrial myopathy"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Grupo de transtornos caracterizado pelo ac\u00famulo sub-sarcolemal de mitoc\u00f4ndrias anormais e fibras vermelhas irregulares que aparecem na colora\u00e7\u00e3o tricr\u00f4mica de Gomori. O ac\u00famulo causa um defeito na fosforila\u00e7\u00e3o oxidativa afetando a musculatura esquel\u00e9tica. Pode se manifestar com fraqueza proximal, intoler\u00e2ncia a exerc\u00edcios, dispneia aos esfor\u00e7os, acidose l\u00e1ctica, mialgias difusas e anomalias dos m\u00fasculos oculares. As muta\u00e7\u00f5es da posi\u00e7\u00e3o 3250 do genoma mitocondrial est\u00e3o associadas \u00e0s miopatias mitocondriais puras e normalmente h\u00e1 antecedente familiar."},"en":{"language":"en","value":"Group of disorders characterized by sub-sarcolemmal accumulation of abnormal mitochondria and ragged red fibers which appear on Gomori trichrome stain Accumulation causes a defect in oxidative phosphorylation affecting the skeletal muscle. May present with proximal weakness, exercise intolerance, exertional dyspnea, lactic acidosis, diffuse myalgias, and eye muscle anomalies. Mutations of position 3250 of the mitochondrial genome are associated with the pure mitochondrial myopathies and there is typically a family history of similar problems."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"1914e28546c43e7efa4b5d1ebc3ef690ebd9d6c0","datavalue":{"value":"https://id.who.int/icd/entity/141365898","type":"string"},"datatype":"url"},"type":"statement","id":"Q106079$137BD68C-9438-4AF2-9BAD-D397B888D94F","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"12d438e1bfdc0f1c43a43e9acf21003f4e932317","datavalue":{"value":"CID11:ID_141365898","type":"string"},"datatype":"string"},"type":"statement","id":"Q106079$E0F74A2E-771B-4716-9B22-95C72B89216B","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"d536278bbffb88e506c0f53dd697dbe82791f7bb","datavalue":{"value":"dki-india-ID_141365898","type":"string"},"datatype":"string"},"type":"statement","id":"Q106079$A2240D40-0FCD-4DDB-AD7E-84284CD5B0CA","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q106079$356F7598-45DB-4652-B39E-9350E8071FB6","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q106079$B6D46020-7D75-4BE9-B078-980C25228C13","rank":"normal"}],"P80":[{"mainsnak":{"snaktype":"value","property":"P80","hash":"8612011b2ca718e4ec0db5a49d2de6d25b2e811c","datavalue":{"value":{"time":"+2026-08-16T00:00:00Z","timezone":0,"before":0,"after":0,"precision":11,"calendarmodel":"http://www.wikidata.org/entity/Q1985727"},"type":"time"},"datatype":"time"},"type":"statement","id":"Q106079$1C43253A-8860-4E62-9FAF-80CA0F345D14","rank":"normal"}]},"sitelinks":{}}}}