{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,4]],"date-time":"2025-10-04T17:45:31Z","timestamp":1759599931705},"reference-count":20,"publisher":"FapUNIFESP (SciELO)","issue":"2b","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2005,6]]},"abstract":"<jats:p>A distrofia muscular cong\u00eanita (DMC) comp\u00f5e um grupo de miopatias caracterizadas por hipotonia e fraqueza muscular notadas j\u00e1 no primeiro ano de vida. A forma de Ullrich \u00e9 caracterizada por retra\u00e7\u00f5es musculares proximais e hiperextensibilidade distal. Cerca de 40% destes pacientes apresentam muta\u00e7\u00f5es em um dos genes que codificam as tr\u00eas sub-unidades do col\u00e1geno VI (COL6), acarretando defici\u00eancia total ou parcial na marca\u00e7\u00e3o da prote\u00edna. Analisamos, atrav\u00e9s de imunofluoresc\u00eancia, a marca\u00e7\u00e3o do COL6 em fragmentos musculares de 50 pacientes com DMC, 20 deles com aus\u00eancia da marca\u00e7\u00e3o para merosina. Identificamos 4 casos com defici\u00eancia total da marca\u00e7\u00e3o do COL6 (8% do total), representando 13% dos casos com marca\u00e7\u00e3o normal para merosina. As altera\u00e7\u00f5es histol\u00f3gicas musculares dos pacientes com COL6 deficiente eram indistingu\u00edveis das outras formas de DMC, por\u00e9m mais brandas que as observadas na DMC com defici\u00eancia de merosina. Em tr\u00eas dos pacientes com COL6 deficiente observou-se hipotonia e fraqueza muscular, notadas j\u00e1 no per\u00edodo neonatal, atraso do desenvolvimento motor, retra\u00e7\u00f5es musculares em joelhos e cotovelos, hiperextensibilidade distal e luxa\u00e7\u00e3o cong\u00eanita do quadril (dois pacientes). Um paciente perdeu a capacidade para a marcha, e outro faleceu por problemas respirat\u00f3rios. A an\u00e1lise da marca\u00e7\u00e3o do COL6, assim como da merosina, no tecido muscular de pacientes com DMC pode auxiliar na identifica\u00e7\u00e3o e caracteriza\u00e7\u00e3o fenot\u00edpica dos diversos subtipos de DMC.<\/jats:p>","DOI":"10.1590\/s0004-282x2005000300027","type":"journal-article","created":{"date-parts":[[2006,1,9]],"date-time":"2006-01-09T18:40:39Z","timestamp":1136832039000},"page":"514-518","source":"Crossref","is-referenced-by-count":1,"title":["An\u00e1lise da express\u00e3o do col\u00e1geno VI na distrofia muscular cong\u00eanita"],"prefix":"10.1590","volume":"63","author":[{"given":"Regina Toni Loureiro de","family":"Freitas","sequence":"first","affiliation":[{"name":"UNIFESP"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edmar","family":"Zanoteli","sequence":"additional","affiliation":[{"name":"UNIFESP"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria da Penha 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