{"entities":{"Q86088":{"pageid":76473,"ns":120,"title":"Item:Q86088","lastrevid":469490,"modified":"2026-08-15T11:27:14Z","type":"item","id":"Q86088","labels":{"mul":{"language":"mul","value":"ID_1682388047"},"pt-br":{"language":"pt-br","value":"Distrofia muscular de cinturas 2N, muta\u00e7\u00e3o do gene POMT2"},"en":{"language":"en","value":"Limb-girdle muscular dystrophy 2N, POMT2 gene mutation"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Distrofia muscular de cinturas-distroglicanopatia (tipo C2; MDDGC2), anteriormente designada distrofia muscular de cintura-membro tipo 2N (LGMD2N), \u00e9 causada por homozigose ou muta\u00e7\u00e3o heterozig\u00f3tica composta no gene POMT2 no cromossomo 14q24.3. \u00c9 uma distrofia muscular autoss\u00f4mica recessiva com in\u00edcio ap\u00f3s o alcance da deambula\u00e7\u00e3o. A cogni\u00e7\u00e3o \u00e9 normal. Faz parte de um grupo de dist\u00farbios semelhantes resultantes da glicosila\u00e7\u00e3o defeituosa do alfa-distroglicano, conhecidos coletivamente como distroglicanopatias."},"en":{"language":"en","value":"Limb-girdle muscular dystrophy-dystroglycanopathy (type C2; MDDGC2), previously designated limb-girdle muscular dystrophy type 2N (LGMD2N), is caused by homozygous or compound heterozygous mutation in the POMT2 gene on chromosome 14q24.3. It is an autosomal recessive muscular dystrophy with onset after ambulation is achieved. Cognition is normal. It is part of a group of similar disorders resulting from defective glycosylation of alpha-dystroglycan, collectively known as dystroglycanopathies."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"bffce2fb7f8ad60ade7185f9218f4cbf5830da29","datavalue":{"value":"https://id.who.int/icd/entity/1682388047","type":"string"},"datatype":"url"},"type":"statement","id":"Q86088$227692DD-1FA7-4D30-B856-E0C7EBB0F016","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"eee302b1b6e33a5537798b497baeb859e7b8f558","datavalue":{"value":"CID11:ID_1682388047","type":"string"},"datatype":"string"},"type":"statement","id":"Q86088$0E1B31C7-E845-4459-8C7B-6BABDE5EC7F1","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"7ddf62053a1ab4c015cf47995e5f15b344895eaa","datavalue":{"value":"dki-india-ID_1682388047","type":"string"},"datatype":"string"},"type":"statement","id":"Q86088$A1CF825D-8065-4043-9EDD-172A7EFE69D3","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q86088$70108EFC-041A-4349-A56C-41B2D1BAB15E","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q86088$ECFFBC86-44B7-4DD5-8A06-06C02E4D3960","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":"Q86088$35600676-93DC-43AC-A397-664F3DC7ADEF","rank":"normal"}]},"sitelinks":{}}}}