{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2022,4,5]],"date-time":"2022-04-05T23:39:18Z","timestamp":1649201958559},"reference-count":24,"publisher":"FapUNIFESP (SciELO)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[1997,6]]},"abstract":"<jats:p>Foi determinada a atividade das enzimas NADH desidiogenase, NADH citocromo e redutase, succinato desidiogenase, succinato citocromo e redutase, citocromo e oxidase e citrato sintase em mitoc\u00f4ndrias de m\u00fasculo esquel\u00e9tico humano normal e doente (suspeito de miopatia mitocondrial). O grupo controle foi constitu\u00eddo de 13 indiv\u00edduos normais e que n\u00e3o faziam uso cont\u00ednuo de f\u00e1rrnacos. O grupo doente era constitu\u00eddo de 10 pacientes cujo diagn\u00f3stico anatomopatol\u00f3gico indicava suspeita de miopatia mitocondrial. Observou-se redu\u00e7\u00e3o na atividade das enzimas em todos os pacientes: 7 com anormalidades em todas as enzimas ensaiadas; 2 com defici\u00eancias em todas as enzimas exceto na citocromo e oxidase; e 1 paciente com disfun\u00e7\u00e3o apenas na atividade da succinato desidiogenase e succinato citocromo e redutase. Este perfil possibilitou caracterizar m\u00faltiplas defici\u00eancias ou defici\u00eancia combinada da cadeia respirat\u00f3ria, al\u00e9m da disfun\u00e7\u00e3o na citrato sintase em 9 pacientes. Um dos casos constituiu exce\u00e7\u00e3o, sendo a defici\u00eancia enzim\u00e1tica restrita ao complexo II. Foi poss\u00edvel concluir que a metodologia usada \u00e9 adequada e facilmente aplic\u00e1vel aos objetivos cl\u00ednicos. Os resultados obtidos possibilitam a caracteriza\u00e7\u00e3o dos complexos enzim\u00e1ticos mitocondriais deficientes, mostrando que tais enfermidades s\u00e3o originadas de disfun\u00e7\u00e3o no metabolismo energ\u00e9tico.<\/jats:p>","DOI":"10.1590\/s0004-282x1997000200013","type":"journal-article","created":{"date-parts":[[2010,10,28]],"date-time":"2010-10-28T02:08:54Z","timestamp":1288231734000},"page":"249-257","source":"Crossref","is-referenced-by-count":0,"title":["Caracteriza\u00e7\u00e3o de miopatias mitocondriais atrav\u00e9s da avalia\u00e7\u00e3o das atividades enzim\u00e1ticas envolvidas no metabolismo energ\u00e9tico"],"prefix":"10.1590","volume":"55","author":[{"given":"F\u00e1bio Cesar","family":"Pedroso","sequence":"first","affiliation":[{"name":"Universidade Federal do Paran\u00e1"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Annibal P.","family":"Campello","sequence":"additional","affiliation":[{"name":"Universidade Federal do 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