{"entities":{"Q90659":{"pageid":81050,"ns":120,"title":"Item:Q90659","lastrevid":502758,"modified":"2026-08-15T17:38:45Z","type":"item","id":"Q90659","labels":{"mul":{"language":"mul","value":"ID_15480497"},"pt-br":{"language":"pt-br","value":"Distrofia muscular de Emery-Dreifuss, autoss\u00f4mica dominante"},"en":{"language":"en","value":"Emery-Dreifuss muscular dystrophy, autosomal dominant"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A distrofia muscular autoss\u00f4mica dominante de Emery-Dreifuss \u00e9 uma das v\u00e1rias doen\u00e7as al\u00e9licas causadas por muta\u00e7\u00f5es nas prote\u00ednas da l\u00e2mina nuclear, l\u00e2minas A e C. A doen\u00e7a \u00e9 caracterizada pelo in\u00edcio precoce de fraqueza do m\u00fasculo esquel\u00e9tico e contraturas articulares e, posteriormente, por cardiomiopatia dilatada e arritmias card\u00edacas. Embora a fisiopatologia n\u00e3o seja compreendida, uma teoria sugere que a organiza\u00e7\u00e3o estrutural desordenada em n\u00facleos enfraquecidos em c\u00e9lulas contr\u00e1teis pode ser a base da doen\u00e7a."},"en":{"language":"en","value":"Autosomal dominant Emery-Dreifuss muscular dystrophy is one of a number of allelic disorders caused by mutations in the nuclear lamina proteins, lamins A and C. The disorder is characterised by the early onset of skeletal muscle weakness and joint contractures and later, by dilated cardiomyopathy and cardiac arrhythmias. Although the pathophysiology is not understood, one theory suggests that disordered structural organisation at weakened nuclei in contractile cells may underlie the disease."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"84efbe224428e1234dfb909072c82de2ac7102b4","datavalue":{"value":"https://id.who.int/icd/entity/15480497","type":"string"},"datatype":"url"},"type":"statement","id":"Q90659$E5C25ADC-786F-4DB6-A6ED-04C288A5C167","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"2ba8f5d17b7f72c677ffac354b1645457d61c6bd","datavalue":{"value":"CID11:ID_15480497","type":"string"},"datatype":"string"},"type":"statement","id":"Q90659$9BA74552-477B-4B26-9883-987C8097F155","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"525f9887f2bb13e793b6e12ccec9604f392f4146","datavalue":{"value":"dki-india-ID_15480497","type":"string"},"datatype":"string"},"type":"statement","id":"Q90659$CDA97456-EF84-4F79-A2D7-BC466C318354","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q90659$70154B00-C01D-4B67-9AFC-BA1379AB1EAB","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q90659$F69BB0EB-7539-4679-BB1B-3F14AB9A7EBB","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":"Q90659$D488D645-F992-4731-9AC3-AF2E5E858965","rank":"normal"}]},"sitelinks":{}}}}