{"entities":{"Q86067":{"pageid":76452,"ns":120,"title":"Item:Q86067","lastrevid":469329,"modified":"2026-08-15T11:25:56Z","type":"item","id":"Q86067","labels":{"mul":{"language":"mul","value":"ID_2062556044"},"pt-br":{"language":"pt-br","value":"Distrofia muscular de cinturas 2L, muta\u00e7\u00e3o do gene AN05"},"en":{"language":"en","value":"Limb-girdle muscular dystrophy 2L, AN05 gene mutation"}},"descriptions":{"pt-br":{"language":"pt-br","value":"A distrofia muscular de cinturas-2L (LGMD2L) \u00e9 causada por muta\u00e7\u00e3o homozig\u00f3tica ou heterozig\u00f3tica composta no gene ANO5 no cromossomo 11p14. A distrofia muscular de Miyoshi-3 tamb\u00e9m \u00e9 causada por muta\u00e7\u00e3o no gene ANO5. A idade de in\u00edcio varia de 11 a 50 anos. A maioria dos pacientes relata dores musculares. Embora a gravidade do fen\u00f3tipo seja vari\u00e1vel, todos os indiv\u00edduos afetados apresentam fraqueza e atrofia proeminentes dos m\u00fasculos quadr\u00edceps femorais, frequentemente com envolvimento assim\u00e9trico."},"en":{"language":"en","value":"Limb-girdle muscular dystrophy-2L (LGMD2L) is caused by homozygous or compound heterozygous mutation in the ANO5 gene on chromosome 11p14. Miyoshi muscular dystrophy-3 is also caused by mutation in the ANO5 gene. Age at onset ranges from 11 to 50 years. The majority of patients report muscle pain. Although the severity of the phenotype is variable, all affected individuals have prominent weakness and atrophy of the quadriceps femoris muscles, often with asymmetric involvement."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"73aef85ac45dc2b5645ee08779b1bc8dfeaa906a","datavalue":{"value":"https://id.who.int/icd/entity/2062556044","type":"string"},"datatype":"url"},"type":"statement","id":"Q86067$12AEB56B-D4C1-4E36-9F1A-88EA30255F9E","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"23d67b6254f47c00f1328bf001571b18064983fd","datavalue":{"value":"CID11:ID_2062556044","type":"string"},"datatype":"string"},"type":"statement","id":"Q86067$D16803D4-A976-4321-9D65-DFCF0E5B996F","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"0ca0f3aaf4491b6c1cbc823dac3879da5fdaa24a","datavalue":{"value":"dki-india-ID_2062556044","type":"string"},"datatype":"string"},"type":"statement","id":"Q86067$01F317F3-4041-4B13-B4E2-8FD0AFBDC3F9","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q86067$65EECFEC-A63F-4822-93D8-7FD68C1CC6B9","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q86067$D9846F50-7A8F-4CD6-8D71-45F219445063","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":"Q86067$1BADA14E-10F1-475F-AA7D-F6ABE12CF8D3","rank":"normal"}]},"sitelinks":{}}}}