Приказ основних података о документу

dc.creatorMuntoni, F
dc.creatorDi Lenarda, A
dc.creatorPorcu, M
dc.creatorSinagra, G
dc.creatorMateddu, A
dc.creatorMarrosu, G
dc.creatorFerlini, A
dc.creatorCau, M
dc.creatorMilašin, Jelena
dc.creatorMelis, MA
dc.creatorMarrosu, MG
dc.creatorCianchetti, C
dc.creatorSanna, A
dc.creatorFalaschi, A
dc.creatorCamerini, F
dc.creatorGiacca, M.
dc.creatorMestroni, L
dc.date.accessioned2020-07-02T11:57:06Z
dc.date.available2020-07-02T11:57:06Z
dc.date.issued1997
dc.identifier.issn1355-6037
dc.identifier.urihttps://smile.stomf.bg.ac.rs/handle/123456789/1076
dc.description.abstractTwo new cases of dilated cardiomyopathy (DC) caused by dystrophinopathy are reported. One patient, a 21 year old man, had a family history of X linked DC, while the other, a 52 year old man, had sporadic disease. Each had abnormal dystrophin immunostaining in muscle or cardiac biopsy specimens, but neither had muscle weakness. Serum creatine kinase activity was raised only in the patient with familial disease. Analysis of dystrophin gene mutations showed a deletion of exons 48-49 in the patient with familial DC and of exons 49-51 in the other. Dystrophin transcription in cardiac tissue from the patient with sporadic disease showed abundant expression, predominantly of the muscle isoform. This study, together with previous reports, suggests that some patients with DC have a dystrophinopathy that can be diagnosed using a combination of biochemical and genetic analyses.en
dc.publisherBritish Med Journal Publ Group, London
dc.rightsopenAccess
dc.sourceHeart
dc.subjectdilated cardiomyopathyen
dc.subjectdystrophinen
dc.subjectBecker muscular dystrophyen
dc.titleDystrophin gene abnormalities in two patients with idiopathic dilated cardiomyopathyen
dc.typearticle
dc.rights.licenseARR
dcterms.abstractМарросу, МГ; Мелис, МA; Цианцхетти, Ц; Санна, A; Ди Ленарда, A; Мунтони, Ф; Цамерини, Ф; Фаласцхи, A; Матедду, A; Милашин, Јелена; Гиацца, М.; Синагра, Г; Цау, М; Местрони, Л; Ферлини, A; Марросу, Г; Порцу, М;
dc.citation.volume78
dc.citation.issue6
dc.citation.spage608
dc.citation.epage612
dc.citation.other78(6): 608-612
dc.identifier.wos000071068200024
dc.identifier.doi10.1136/hrt.78.6.608
dc.identifier.pmid9470882
dc.identifier.scopus2-s2.0-14444268277
dc.identifier.fulltexthttps://smile.stomf.bg.ac.rs/bitstream/id/3251/1071.pdf
dc.type.versionpublishedVersion


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Приказ основних података о документу