{"entities":{"Q86066":{"pageid":76451,"ns":120,"title":"Item:Q86066","lastrevid":469321,"modified":"2026-08-15T11:25:52Z","type":"item","id":"Q86066","labels":{"mul":{"language":"mul","value":"ID_437873883"},"pt-br":{"language":"pt-br","value":"Distrofia muscular de cinturas 2J, muta\u00e7\u00e3o do gene titina"},"en":{"language":"en","value":"Limb-girdle muscular dystrophy 2J, Titin gene mutation"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A distrofia muscular de cinturas tipo 2J (LGMD2J) \u00e9 causada por muta\u00e7\u00e3o homozig\u00f3tica no gene da titina, enquanto a muta\u00e7\u00e3o heterozig\u00f3tica no gene da titina causa distrofia muscular tibial tardia. A muta\u00e7\u00e3o no gene da titina tamb\u00e9m causa cardiomiopatia dilatada tipo 1G. O in\u00edcio do fen\u00f3tipo grave ocorre na primeira \u00e0 terceira d\u00e9cadas e envolve fraqueza de todos os m\u00fasculos proximais. Incapacidade grave com perda de deambula\u00e7\u00e3o ocorre dentro de 20 anos (terceira a sexta d\u00e9cadas). N\u00e3o h\u00e1 envolvimento da musculatura facial ou cardiomiopatia. Alguns pacientes desenvolvem posteriormente envolvimento muscular distal."},"en":{"language":"en","value":"Limb-girdle muscular dystrophy type 2J (LGMD2J) is caused by homozygous mutation in the titin gene, whereas heterozygous mutation in the titin gene causes tardive tibial muscular dystrophy. Mutation in the titin gene also causes dilated cardiomyopathy type 1G. Onset of the severe phenotype is in the first to third decades and involves weakness of all proximal muscles. Severe disability with loss of ambulation occurs within 20 years (third to sixth decades). There is no facial muscle involvement or cardiomyopathy. Some patients later develop distal muscle involvement."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"60566c374240cafba01010392b796d3de2400cc3","datavalue":{"value":"https://id.who.int/icd/entity/437873883","type":"string"},"datatype":"url"},"type":"statement","id":"Q86066$C5B38D79-05D7-4B36-A1D7-6AAE41109AEE","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"76896bf29d5e6ca12758e6113278c1ddefb826fe","datavalue":{"value":"CID11:ID_437873883","type":"string"},"datatype":"string"},"type":"statement","id":"Q86066$7983F60E-2083-49BC-8116-5E054E05F2B4","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"9bec07b50a530b3bdade951d163b5ca5266e48cf","datavalue":{"value":"dki-india-ID_437873883","type":"string"},"datatype":"string"},"type":"statement","id":"Q86066$EBFD9272-85B2-4A43-A307-ED6A6E30CBC2","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q86066$43E65585-BB2E-4FC2-B60F-4E68CCF2A6B7","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":"Q86066$55D2CCF7-44A8-4E2B-A7C2-BFA629B4CCE1","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":"Q86066$1B6DD3C7-7BA6-4204-ACB9-C41A327D9111","rank":"normal"}]},"sitelinks":{}}}}