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.
Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation.
PLOS Genetics 7 (12), e1002427.
at publisher (via DOI)
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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