{"entities":{"Q104027":{"pageid":94425,"ns":120,"title":"Item:Q104027","lastrevid":599058,"modified":"2026-08-17T09:51:50Z","type":"item","id":"Q104027","labels":{"mul":{"language":"mul","value":"ID_2136141208"},"pt-br":{"language":"pt-br","value":"Doen\u00e7a multiminicore pr\u00e9-natal com artrogripose m\u00faltipla cong\u00eanita"},"en":{"language":"en","value":"Antenatal multi-minicore disease with arthrogryposis multiplex congenital"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Miopatia cong\u00eanita infrequente caracterizada pelo in\u00edcio pr\u00e9-natal de artrogripose das extremidades distais ou cintura do membro. Multi-minicore s\u00e3o definidos por mudan\u00e7as estruturais na microscopia \u00f3ptica e eletr\u00f4nica, ou seja, v\u00e1rias pequenas \u00e1reas sem atividade enzim\u00e1tica oxidativa e desorganiza\u00e7\u00e3o focal de prote\u00ednas contr\u00e1teis envolvendo no m\u00e1ximo alguns sarc\u00f4meros. A forma cl\u00e1ssica da doen\u00e7a se manifesta por hipotonia mais ou menos grave e fraqueza generalizada com predom\u00ednio na musculatura axial e proximal dos membros."},"en":{"language":"en","value":"Infrequent congenital myopathy characterised by antenatal onset of arthrogryposis of distal extremities or limb girdle. Multi-minicore are defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganisation of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalised weakness with predominance in axial and proximal limb muscles."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"0383baefe4a355712742b0552e8e760a5970ce27","datavalue":{"value":"https://id.who.int/icd/entity/2136141208","type":"string"},"datatype":"url"},"type":"statement","id":"Q104027$926CF3E2-BE5E-4724-88FC-50C06D55B6A4","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"29b40f46bfea31fb1053e628ac280e47b2c40d23","datavalue":{"value":"CID11:ID_2136141208","type":"string"},"datatype":"string"},"type":"statement","id":"Q104027$ACED7629-D8AB-4A19-9891-9DF810F17DDF","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"652596d1fb4c5f7e4d2356cf6816a631f7a2c6de","datavalue":{"value":"dki-india-ID_2136141208","type":"string"},"datatype":"string"},"type":"statement","id":"Q104027$4F319C41-0BB0-449C-8EC0-F2517FEE9026","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q104027$9FC195DE-FD93-4E01-A565-7209A9BB5A6C","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":"Q104027$84AAD9AF-5543-472E-B8FD-1F21D0BB375A","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":"Q104027$2B3A53A7-E79D-4713-8684-B4957E6423A1","rank":"normal"}]},"sitelinks":{}}}}