{"entities":{"Q103689":{"pageid":94087,"ns":120,"title":"Item:Q103689","lastrevid":596590,"modified":"2026-08-17T09:26:52Z","type":"item","id":"Q103689","labels":{"mul":{"language":"mul","value":"ID_987337152"},"pt-br":{"language":"pt-br","value":"Distrofia muscular cong\u00eanita tipo 1D com muta\u00e7\u00e3o no gene LARGE"},"en":{"language":"en","value":"Congenital muscular dystrophy type 1D large gene mutation"}},"descriptions":{"pt-br":{"language":"pt-br","value":"Distrofia muscular cong\u00eanita caracterizada por anormalidade na glicosila\u00e7\u00e3o da alfa-distroglicana que se correlaciona com um padr\u00e3o cada vez mais grave de efeitos teciduais, estendendo-se de uma distrofia muscular da cinturas (p\u00e9lvica e escapular) de in\u00edcio na idade adulta com intelig\u00eancia normal (LGMD tipo 2I) at\u00e9 malforma\u00e7\u00f5es cong\u00eanitas graves do c\u00e9rebro e olhos (s\u00edndrome de Walker-Warburg). A distrofia muscular cong\u00eanita tipo 1D devido a muta\u00e7\u00f5es no gene LARGE \u00e9 a mais rara das alfa-distroglicanopatias identificadas at\u00e9 o momento. As crian\u00e7as afetadas t\u00eam anormalidades neurol\u00f3gicas e musculares t\u00edpicas associadas \u00e0s alfa-distroglicanopatias, mas com gravidades muito diferentes."},"en":{"language":"en","value":"Congenital muscular dystrophy characterised by abnormality in the glycosylation of the alpha-dystroglycan that correlates with an increasingly severe pattern of tissue effects, extending from an adult-onset limb-girdle muscular dystrophy with normal intelligence (LGMD type 2I) to severe congenital brain and eye malformations (Walker\u2013Warburg syndrome). Congenital muscular dystrophy type 1D due to mutations in LARGE is the rarest of the alpha-dystroglycanopathies identified to date. Affected children have typical neurological and muscle abnormalities associated with the alpha-dystroglycanopathies, but with very different severities."}},"aliases":{},"claims":{"P68":[{"mainsnak":{"snaktype":"value","property":"P68","hash":"56c0a84c64aabbc99ce4f7771f32564f0a9d35aa","datavalue":{"value":"https://id.who.int/icd/entity/987337152","type":"string"},"datatype":"url"},"type":"statement","id":"Q103689$ED246158-EC8D-4A7F-A54E-E215CD657D62","rank":"normal"}],"P67":[{"mainsnak":{"snaktype":"value","property":"P67","hash":"e68a0f6a7d1e4d504ab51945c21922c0d9a445e6","datavalue":{"value":"CID11:ID_987337152","type":"string"},"datatype":"string"},"type":"statement","id":"Q103689$B0DACF15-A855-4E78-980A-9291E62C88A1","rank":"normal"}],"P70":[{"mainsnak":{"snaktype":"value","property":"P70","hash":"700dde7451b749523258ce46ff2a59ebe87b733f","datavalue":{"value":"dki-india-ID_987337152","type":"string"},"datatype":"string"},"type":"statement","id":"Q103689$47F5A74E-9877-427E-8356-34B38A8967FC","rank":"normal"}],"P86":[{"mainsnak":{"snaktype":"value","property":"P86","hash":"a96031634b9f5dafddaf781bbba3adea6bb64ef4","datavalue":{"value":"Conclu\u00eddo","type":"string"},"datatype":"string"},"type":"statement","id":"Q103689$07B6F4E9-2FD0-45B3-BA80-B40FC9518A49","rank":"normal"}],"P78":[{"mainsnak":{"snaktype":"value","property":"P78","hash":"5f9b5be68b7400da549761cf15abfdbc4d1e075b","datavalue":{"value":"https://pauloleads.com.br/cases-publicos/","type":"string"},"datatype":"url"},"type":"statement","id":"Q103689$FC8D6BEB-CC13-497A-B7EF-23E68B74C56C","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":"Q103689$0651B14A-FC86-4D7A-A773-650B15CDC94A","rank":"normal"}]},"sitelinks":{}}}}