{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,27]],"date-time":"2026-09-27T13:03:13Z","timestamp":1790514193678,"version":"4.1.0"},"reference-count":31,"publisher":"FapUNIFESP (SciELO)","issue":"3","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[1985,9]]},"abstract":"<jats:p>S\u00e3o relatados os casos de 8 pacientes, sendo 7 do sexo masculino, cuja idade variou entre 5 dias e 64 anos. Sete pacientes apresentavam diminui\u00e7\u00e3o da for\u00e7a muscular e todos apresentavam, nas bi\u00f3psias musculares, ac\u00famulo de lip\u00eddios. Os sintomas iniciaram nos primeiros dias de vida em tr\u00eas pacientes, na inf\u00e2ncia em dois, na idade adulta em dois; um dos casos apresentava-se assinto-m\u00e1tico aos 64 anos de idade (heterozigoto?). Em graus vari\u00e1veis os pacientes apresentavam dificuldades na degluti\u00e7\u00e3o, hipotonia, atrofia muscular, dificuldades na mastiga\u00e7\u00e3o, parestesias em membros inferiores, hepatomegalia e esplenome-galia. Cinco casos tinham hist\u00f3ria familiar e um relatava recorr\u00eancias dos sintomas. Todos apresentavam aumento dos enzimas s\u00e9ricos, principalmente da creatinoquinase. A eletromiografia foi compat\u00edvel a envolvimento muscular prim\u00e1rio em um caso, desenerva\u00e7\u00e3o em dois e neuromiop\u00e1tico em dois, n\u00e3o tendo sido realizada em tr\u00eas casos. Na bi\u00f3psia muscular, em todos os casos, al\u00e9m do ac\u00famulo de lip\u00eddios, ocorriam: componente de desenerva\u00e7\u00e3o em 4, miopa-tia cr\u00f4nica em 4, atrofia de fibras do tipo II em um. Em dois casos, as altera\u00e7\u00f5es histol\u00f3gicas eram sugestivas de atrofia espinhal infantil. Um dos casos, possivelmente pertencente \u00e0 forma sist\u00eamica de defici\u00eancia de carnitina, possu\u00eda importante envolvimento mioc\u00e1rdico, vindo a falecer. S\u00e3o discutidos aspectos cl\u00ednicos, metab\u00f3licos e terap\u00eauticos das defici\u00eancias musculares de carnitina.<\/jats:p>","DOI":"10.1590\/s0004-282x1985000300007","type":"journal-article","created":{"date-parts":[[2012,8,15]],"date-time":"2012-08-15T10:11:17Z","timestamp":1345025477000},"page":"281-295","source":"Crossref","is-referenced-by-count":6,"title":["Defici\u00eancia muscular de carnitina: relato de 8 casos com estudo cl\u00ednico, eletromiogr\u00e1fico, histoqu\u00edmico e bioqu\u00edmico muscular"],"prefix":"10.1590","volume":"43","author":[{"given":"Lineu Cesar","family":"Werneck","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Salvatore","family":"Di Mauro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"530","reference":[{"key":"ref1","first-page":"533","article-title":"Carnitine deficiency of skeletal muscle: Report of a treated case","volume":"25","author":"ANGELINI C;","year":"1976","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref2","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1212\/WNL.30.3.263","article-title":"Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure","volume":"30","author":"BERTORINI T.","year":"1980","journal-title":"Neurology","ISSN":"https:\/\/id.crossref.org\/issn\/0028-3878","issn-type":"print"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"279","DOI":"10.1016\/0022-510X(77)90075-2","article-title":"Muscle carnitine levels in neuromuscular disease","volume":"34","author":"BORUM P.R.","year":"1977","journal-title":"J. neurol. 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