{"entities":{"Q103667":{"pageid":94065,"ns":120,"title":"Item:Q103667","lastrevid":596427,"modified":"2026-08-17T09:25:34Z","type":"item","id":"Q103667","labels":{"mul":{"language":"mul","value":"ID_326084905"},"pt-br":{"language":"pt-br","value":"Distrofia muscular cong\u00eanita devida a defici\u00eancia de lamina A/C"},"en":{"language":"en","value":"Congenital muscular dystrophy due to lamin A/C deficiency"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Distrofia muscular cong\u00eanita caracterizada por fraqueza cervical acentuada e associada a muta\u00e7\u00f5es no gene da l\u00e2mina A/C. As laminopatias s\u00e3o um grupo altamente heterog\u00eaneo de doen\u00e7as causadas por muta\u00e7\u00f5es no gene LMNA, que codifica as laminas do tipo A do envelope nuclear. Muta\u00e7\u00f5es nesse gene t\u00eam sido associadas a uma acentuada heterogeneidade fenot\u00edpica que tamb\u00e9m inclui dist\u00farbios n\u00e3o musculares. Em rela\u00e7\u00e3o aos fen\u00f3tipos miop\u00e1ticos, Emery-Dreifuss autoss\u00f4mico dominante, LGMD1B e distrofia muscular associada a defeitos do sistema de condu\u00e7\u00e3o card\u00edaca s\u00e3o as condi\u00e7\u00f5es mais comuns."},"en":{"language":"en","value":"Congenital muscular dystrophy characterised by marked cervical weakness and associated with mutations in lamin A/C gene. Laminopathies are a highly heterogenous group of disorders caused by mutations in the LMNA gene, which codes for the A-type lamins of the nuclear envelope. Mutations in this gene have been associated to a marked phenotypic heterogeneity that also include non-muscular disorders. Regarding myopathic phenotypes, autosomal dominant Emery-Dreifuss, LGMD1B and muscular dystrophy associated with cardiac conduction system defects are the most common conditions."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"efa12f9f349e7c4e32567929579ca3e0238e3b5e","datavalue":{"value":"https://id.who.int/icd/entity/326084905","type":"string"},"datatype":"url"},"type":"statement","id":"Q103667$BAB0F4E8-89B5-4DAB-909F-7C993BA4D154","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"54adbe90a3b365411a032e030a9f4b1274cfce53","datavalue":{"value":"CID11:ID_326084905","type":"string"},"datatype":"string"},"type":"statement","id":"Q103667$E5C71630-81DA-463E-A78D-BA260E55FD95","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"1ba770c28c561e4ecbb3d653176e540e493b1e41","datavalue":{"value":"dki-india-ID_326084905","type":"string"},"datatype":"string"},"type":"statement","id":"Q103667$6C557965-C64E-4CBE-AAA1-6437A5BCC76B","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q103667$2E39BA38-F33E-4268-A864-FAD56CF8D20C","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":"Q103667$9E1335E5-9B7B-4453-A0AD-0D40FAC57823","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":"Q103667$747E8941-0928-426D-A03F-7B0E923AAFDA","rank":"normal"}]},"sitelinks":{}}}}