{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:37:26Z","timestamp":1760121446331},"reference-count":15,"publisher":"FapUNIFESP (SciELO)","issue":"2a","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2006,6]]},"abstract":"<jats:p>A distrofia muscular de Emery-Dreifuss \u00e9 uma forma de distrofia muscular freq\u00fcentemente associada a contraturas articulares e defeitos de condu\u00e7\u00e3o card\u00edaca, que pode ser causada pela defici\u00eancia da prote\u00edna emerina na membrana nuclear interna das fibras musculares. Descrevemos o caso de um homem de 19 anos com diminui\u00e7\u00e3o de for\u00e7a muscular, hipotrofia nas cinturas escapular e p\u00e9lvica, disfagia, contraturas articulares em cotovelos e tornozelos, apresentando hist\u00f3ria familiar compat\u00edvel com heran\u00e7a ligada ao cromossomo X. A investiga\u00e7\u00e3o mostrou creatinaquinase s\u00e9rica elevada, eletrocardiograma com bloqueio atrioventricular de primeiro grau e bloqueio de ramo direito, eletroneuromiografia normal, bi\u00f3psia muscular com altera\u00e7\u00f5es miop\u00e1ticas e a an\u00e1lise por imuno-histoqu\u00edmica mostrou defici\u00eancia de emerina. S\u00e3o discutidas as manifesta\u00e7\u00f5es cl\u00ednicas e gen\u00e9ticas, altera\u00e7\u00f5es laboratoriais e eletroneuromiogr\u00e1ficas, bem como, a import\u00e2ncia do estudo do padr\u00e3o de heran\u00e7a no aconselhamento gen\u00e9tico destas fam\u00edlias.<\/jats:p>","DOI":"10.1590\/s0004-282x2006000200027","type":"journal-article","created":{"date-parts":[[2006,8,2]],"date-time":"2006-08-02T13:56:37Z","timestamp":1154526997000},"page":"314-317","source":"Crossref","is-referenced-by-count":2,"title":["Distrofia muscular de Emery-Dreifuss: relato de caso"],"prefix":"10.1590","volume":"64","author":[{"given":"Ana Lucila Moreira","family":"Carsten","sequence":"first","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Paulo Jos\u00e9","family":"Lorenzoni","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rosana Herminia","family":"Scola","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lineu C\u00e9sar","family":"Werneck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"228","DOI":"10.1016\/S0960-8966(00)00105-X","article-title":"Emery-Dreifuss muscular dystrophy: a 40 year retrospective","volume":"10","author":"Emery AEH","year":"2000","journal-title":"Neuromuscul Disord","ISSN":"http:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"508","DOI":"10.1016\/S0960-8966(03)00063-4","article-title":"108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy Workshop, 13-15 September 2002, Naarden, The Neterlands","volume":"13","author":"Bonne G","year":"2003","journal-title":"Neuromuscul Disord","ISSN":"http:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1016\/S0960-8966(01)00239-5","article-title":"Autosomal dominant Emery-Dreifuss muscular dystrophy: a new family with late diagnosis","volume":"12","author":"Colomer J","year":"2002","journal-title":"Neuromuscul Disord","ISSN":"http:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"338","DOI":"10.1136\/jnnp.29.4.338","article-title":"Unusual type of benign X-linked muscular dystrophy","volume":"29","author":"Emery AEH","year":"1966","journal-title":"J Neurol Neurosurg Psychiatry","ISSN":"http:\/\/id.crossref.org\/issn\/0022-3050","issn-type":"print"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1123","DOI":"10.1590\/S0004-282X2000000600023","article-title":"Emery-Dreifuss muscular dystrophy","volume":"58","author":"Carvalho AAS","year":"2000","journal-title":"Arq Neuropsiquiatr","ISSN":"http:\/\/id.crossref.org\/issn\/0004-282X","issn-type":"print"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"2227","DOI":"10.1016\/j.ehj.2003.09.020","article-title":"Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A\/C gene mutations","volume":"24","author":"Sanna T","year":"2003","journal-title":"Eur Heart J","ISSN":"http:\/\/id.crossref.org\/issn\/0195-668X","issn-type":"print"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"285","DOI":"10.1038\/6799","article-title":"Mutations in the gene encoding lamin A\/C cause autossomal dominant Emery-Dreifuss muscular dystrophy","volume":"21","author":"Bonne G","year":"1999","journal-title":"Nat Genet","ISSN":"http:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1407","DOI":"10.1086\/302869","article-title":"Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy","volume":"66","author":"Raffaele di Barletta M","year":"2000","journal-title":"Am J Hum Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1038\/ng1294-323","article-title":"Identification of a novel X-linked gene responsible for Emery-Dreifuss muscular dystrophy","volume":"8","author":"Bione S","year":"1994","journal-title":"Nat Genet","ISSN":"http:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"157","DOI":"10.1038\/sj.ejhg.5200744","article-title":"Emery-Dreifuss muscular dystrophy","volume":"10","author":"Helbling-Leclerc A","year":"2002","journal-title":"Eur J Hum Genet","ISSN":"http:\/\/id.crossref.org\/issn\/1018-4813","issn-type":"print"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"370","DOI":"10.1172\/JCI200419670","article-title":"Lamin A\/C deficiency causes defective nuclear mechanics and mechanotransduction","volume":"113","author":"Lammerding J","year":"2004","journal-title":"J Clin Invest","ISSN":"http:\/\/id.crossref.org\/issn\/0021-9738","issn-type":"print"},{"key":"ref12","first-page":"52","article-title":"Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy","volume":"22","author":"Niebroj-Dobosz I","year":"2003","journal-title":"Acta Myol"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"393","DOI":"10.1002\/mus.10302","article-title":"Nuclear envelope proteins and neuromuscular diseases","volume":"27","author":"\u00d6stlund C","year":"2003","journal-title":"Muscle Nerve","ISSN":"http:\/\/id.crossref.org\/issn\/0148-639X","issn-type":"print"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1016\/S0960-8966(02)00067-6","article-title":"Functional domains of the nucleus: implications for Emery-Dreifuss muscular dystrophy","volume":"12","author":"Maraldi NM","year":"2002","journal-title":"Neuromuscul Disord","ISSN":"http:\/\/id.crossref.org\/issn\/0960-8966","issn-type":"print"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"321","DOI":"10.1093\/oxfordjournals.jbchem.a002860","article-title":"Interaction between emerin and nuclear lamins","volume":"129","author":"Sakaki M","year":"2001","journal-title":"J Biochem"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v64n2a\/a27v642a.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,28]],"date-time":"2017-05-28T12:12:08Z","timestamp":1495973528000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2006000200027&lng=pt&tlng=pt"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2006,6]]},"references-count":15,"journal-issue":{"issue":"2a","published-print":{"date-parts":[[2006,6]]}},"alternative-id":["S0004-282X2006000200027"],"URL":"https:\/\/doi.org\/10.1590\/s0004-282x2006000200027","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2006,6]]}}}