{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T01:56:29Z","timestamp":1649123789188},"reference-count":13,"publisher":"FapUNIFESP (SciELO)","issue":"2a","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:p>A miopatia por corpos esfer\u00f3ides \u00e9 doen\u00e7a rara, classificada no grupo das miopatias cong\u00eanitas relacionadas aos dist\u00farbios da desmina; apresenta, em geral, origem autoss\u00f4mica dominante e com in\u00edcio dos sintomas na fase adulta. Relatamos o caso de menina de sete anos, com diparesia facial, hipotrofia e hipotonia muscular generalizadas, arreflexia profunda generalizada, for\u00e7a muscular proximal nos membros superiores e inferiores e distal dos membros superiores grau 3 e distal nos membros inferiores grau 1. A eletromiografia de agulha evidenciou recrutamento aumentado e potenciais de unidade motora de curta dura\u00e7\u00e3o e baixa amplitude, caracterizando um padr\u00e3o miop\u00e1tico. A bi\u00f3psia muscular revelou padr\u00e3o misto para miopatia e desinerva\u00e7\u00e3o e presen\u00e7a de corpos esfer\u00f3ides intracitoplasm\u00e1ticos compat\u00edveis com a miopatia por corpos esfer\u00f3ides. No presente caso, a paciente apresentou precocemente o in\u00edcio dos sintomas e n\u00e3o h\u00e1 relatos de casos semelhantes na fam\u00edlia.<\/jats:p>","DOI":"10.1590\/s0004-282x2005000200026","type":"journal-article","created":{"date-parts":[[2006,1,9]],"date-time":"2006-01-09T18:48:56Z","timestamp":1136832536000},"page":"332-334","source":"Crossref","is-referenced-by-count":0,"title":["Miopatia por corpos esfer\u00f3ides: relato de caso"],"prefix":"10.1590","volume":"63","author":[{"given":"Rosana Herm\u00ednia","family":"Scola","sequence":"first","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Alcides","family":"Trentin Jr","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Rodrigo","family":"Vaez","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vinicius de Faria","family":"Gignon","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tha\u00eds Gurgel","family":"Costa","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lineu Cesar","family":"Werneck","sequence":"additional","affiliation":[{"name":"Universidade Federal do Paran\u00e1,  Brasil"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","series-title":"The striated muscle","first-page":"442","volume-title":"Congenital myopathies","author":"Munsat TL","year":"1973"},{"key":"ref2","series-title":"Birth defects: Original Article Series, Vol 7","first-page":"2","volume-title":"Some rare congenital and metabolic myophaties","author":"Walton JN","year":"1971"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1212\/WNL.21.6.579","article-title":"Familial myopathy with probable lysis of myifibrils in type I fibers","volume":"21","author":"Cancilla PA","year":"1971","journal-title":"Neurology","ISSN":"http:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"14","DOI":"10.1002\/mus.880010104","article-title":"Autosomal dominant \"spheroid body myopathy\"","volume":"1","author":"Goebel HH","year":"1978","journal-title":"Muscle Nerve","ISSN":"http:\/\/id.crossref.org\/issn\/0148-639X","issn-type":"print"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"114","DOI":"10.1590\/S0004-282X1996000100019","article-title":"Miopatia nemal\u00ednica com corpos intracitoplasm\u00e1ticos esfer\u00f3ides","volume":"54","author":"Azevedo HCA","year":"1996","journal-title":"Arq. 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