http://purl.uniprot.org/citations/10832829 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
http://purl.uniprot.org/citations/10832829 | http://www.w3.org/2000/01/rdf-schema#comment | "BackgroundIn a systematic analysis of inherited forms of cardiomyopathy, we previously identified a family with X-linked dilated cardiomyopathy characterised by a mutation in the rod region of dystrophin. We have now attempted to eludicate the genetic mechanism involved in this disease, as well as the role of dystrophin-associated glycoproteins.MethodsThe affected dystrophin epitope, which lacks binding to the dys-1 antibody, was analysed by single-strand conformation polymorphism analysis, reverse-transcription PCR, and DNA sequencing. Effects on dystrophin-associated glycoproteins were studied by immunohistochemistry and western blotting.FindingsA translation-termination mutation (C4148T) in exon 29 of the dystrophin gene was found in all affected family members. Alternative splicing rescued the reading frame and led to the expression of a dystrophin molecule lacking 50 aminoacids both in cardiac and skeletal muscle. Immunohistochemical analysis of the dystrophin-associated proteins revealed a reduction of beta-sarcoglycan and delta-sarcoglycan in the sarcolemma of cardiac muscle but not skeletal muscle tissue. However, western blotting revealed similar amounts of sarcoglycan subunits in both tissues.InterpretationThe molecular mechanism of this subtype of X-linked cardiomyopathy may be explained by a conformational change in exon-29-deleted dystrophin, resulting in disruption of the sarcoglycan assembly in heart muscle but not skeletal muscle."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.org/dc/terms/identifier | "doi:10.1016/s0140-6736(00)02266-2"xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Herrmann R."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Muller M."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Katus H.A."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Voit T."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Cohn R.D."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Franz W.M."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Cremer M."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Muller O.J."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/author | "Rothmann T."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/date | "2000"xsd:gYear |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/name | "Lancet"xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/pages | "1781-1785"xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/title | "Association of nonsense mutation of dystrophin gene with disruption of sarcoglycan complex in X-linked dilated cardiomyopathy."xsd:string |
http://purl.uniprot.org/citations/10832829 | http://purl.uniprot.org/core/volume | "355"xsd:string |
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