{"entities":{"Q84635":{"pageid":75020,"ns":120,"title":"Item:Q84635","lastrevid":458914,"modified":"2026-08-15T09:58:52Z","type":"item","id":"Q84635","labels":{"mul":{"language":"mul","value":"ID_1084199137"},"pt-br":{"language":"pt-br","value":"Miopatia com filamina C"},"en":{"language":"en","value":"Filamin C myopathy"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A miopatia comm filamina C \u00e9 uma classe de miopatias esquel\u00e9ticas progressivas devido \u00e0 muta\u00e7\u00e3o no gene da filamina C (FLNC). Os pacientes apresentam inicialmente fraqueza muscular proximal, enquanto os m\u00fasculos distais e respirat\u00f3rios s\u00e3o afetados com a progress\u00e3o da doen\u00e7a. Em algumas formas, ocasionalmente resulta em tetraparesia e depend\u00eancia de cadeira de rodas. A bi\u00f3psia muscular mostra sinais t\u00edpicos de miopatia miofibrilar, incluindo desintegra\u00e7\u00e3o das miofibrilas e agrega\u00e7\u00e3o de v\u00e1rias prote\u00ednas em dep\u00f3sitos intracelulares distintos."},"en":{"language":"en","value":"Filamin C myopathy is a class of progressive skeletal myopathies due to mutation in the filamin C gene (FLNC). Patients initially present with proximal muscle weakness, while distal and respiratory muscles become affected with disease progression. In some forms, it eventually results in tetraparesis and wheelchair dependence. Muscle biopsy shows typical signs of myofibrillar myopathy, including disintegration of myofibrils and aggregation of several proteins into distinct intracellular deposits."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"60fc5e79e84c2ca28c2a8c70028ad8bb1fd4a533","datavalue":{"value":"https://id.who.int/icd/entity/1084199137","type":"string"},"datatype":"url"},"type":"statement","id":"Q84635$FA9316FC-8C3D-41DB-AB3D-91BBBFAD8329","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"d163d91a8ea55a2dd0b4e8739b1e77a0fbd75d67","datavalue":{"value":"CID11:ID_1084199137","type":"string"},"datatype":"string"},"type":"statement","id":"Q84635$91E9D813-BEF1-4E4E-BDAC-76E0D56C651A","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"03c367b48a74f44786837ef63778403438d5d431","datavalue":{"value":"dki-india-ID_1084199137","type":"string"},"datatype":"string"},"type":"statement","id":"Q84635$3F9CED94-7896-4954-80E8-FEDB1CD9C9A6","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q84635$431128A8-C915-4B23-8282-D9F51A821497","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q84635$EFA2A6FF-1335-41B6-B66A-13A3EE3060FC","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":"Q84635$BAB2FC0B-EBD9-454B-AC4B-19963B5ABC64","rank":"normal"}]},"sitelinks":{}}}}