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

URN to cite this document:
urn:nbn:de:bvb:355-epub-234711
Lefeber, Dirk J. ; de Brouwer, Arjan P. M. ; Morava, Eva ; Riemersma, Moniek ; Schuurs-Hoeijmakers, Janneke H. M. ; Absmanner, Birgit ; Verrijp, Kiek ; van den Akker, Willem M. R. ; Huijben, Karin ; Steenbergen, Gerry ; van Reeuwijk, Jeroen ; Jozwiak, Adam ; Zucker, Nili ; Lorber, Avraham ; Lammens, Martin ; Knopf, Carlos ; van Bokhoven, Hans ; Gruenewald, Stephanie ; Lehle, Ludwig ; Kapusta, Livia ; Mandel, Hanna ; Wevers, Ron A.
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Date of publication of this fulltext: 22 Feb 2012 12:49


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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