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http://purl.uniprot.org/citations/10430757http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10430757http://www.w3.org/1999/02/22-rdf-syntax-ns#typehttp://purl.uniprot.org/core/Journal_Citation
http://purl.uniprot.org/citations/10430757http://www.w3.org/2000/01/rdf-schema#comment"

Background

Idiopathic dilated cardiomyopathy, of which approximately 20% of cases are familial (FDCM), is a primary myocardial disorder characterized by ventricular dilatation and impaired systolic function. It is a common cause of heart failure and the need for cardiac transplantation. Although 6 chromosomal loci responsible for autosomal dominant FDCM have been mapped by linkage analysis, none of these genes have been identified. By use of the candidate-gene approach, actin was identified recently as being responsible for dilated cardiomyopathy. Considerable evidence suggests desmin, a muscle-specific intermediate filament, plays a significant role in cardiac growth and development.

Methods and results

To determine whether a defect of desmin induces dilated cardiomyopathy, 44 probands with FDCM underwent clinical evaluation and DNA analysis. Diagnostic criteria, detected by echocardiography, consisted of ventricular dimension of >/=2.7 cm/m(2) with an ejection fraction ConclusionsA novel missense mutation of desmin, Ile451Met, was identified as the genetic cause of idiopathic dilated cardiomyopathy. This finding is of particular significance because this is the first mutation detected in the desmin tail domain, and the function of the desmin tail remains unknown. Because this mutation leads to a restricted cardiac phenotype in the family studied in the present report, it suggests that the tail of desmin plays an important functional role in cardiac tissue."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.org/dc/terms/identifier"doi:10.1161/01.cir.100.5.461"xsd:string
http://purl.uniprot.org/citations/10430757http://purl.org/dc/terms/identifier"doi:10.1161/01.cir.100.5.461"xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Burch P.E."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Burch P.E."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Li D."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Li D."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Gonzalez O."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Gonzalez O."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Bachinski L.L."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Bachinski L.L."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Roberts R."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Roberts R."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Hill R."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Hill R."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Mann D.L."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Mann D.L."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Quinones M.A."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Quinones M.A."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Tapscoft T."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Tapscoft T."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Zoghbi W.A."xsd:string
http://purl.uniprot.org/citations/10430757http://purl.uniprot.org/core/author"Zoghbi W.A."xsd:string
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