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Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation

Lefeber, Dirk J. and de Brouwer, Arjan P. M. and Morava, Eva and Riemersma, Moniek and Schuurs-Hoeijmakers, Janneke H. M. and Absmanner, Birgit and Verrijp, Kiek and van den Akker, Willem M. R. and Huijben, Karin and Steenbergen, Gerry and van Reeuwijk, Jeroen and Jozwiak, Adam and Zucker, Nili and Lorber, Avraham and Lammens, Martin and Knopf, Carlos and van Bokhoven, Hans and Gruenewald, Stephanie and Lehle, Ludwig and Kapusta, Livia and Mandel, Hanna and Wevers, Ron A. (2011) Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation. PLOS Genetics 7 (12), e1002427.

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Abstract

Genetic causes for autosomal recessive forms of dilated cardiomyopathy (DCM) are only rarely identified, although they are thought to contribute considerably to sudden cardiac death and heart failure, especially in young children. Here, we describe 11 young patients (5-13 years) with a predominant presentation of dilated cardiomyopathy (DCM). Metabolic investigations showed deficient protein ...

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Item Type:Article
Date:December 2011
Institutions:Biology, Preclinical Medicine > Institut für Botanik / Zellbiologie
Identification Number:
ValueType
10.1371/journal.pgen.1002427DOI
Subjects:500 Science > 570 Life sciences
Status:Published
Refereed:Yes, this version has been refereed
Created at the University of Regensburg:Unknown
Owner: Universitätsbibliothek Regensburg
Deposited On:22 Feb 2012 12:49
Last Modified:13 Mar 2014 18:39
Item ID:23471
Owner Only: item control page
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