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

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 p...

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Main Authors: 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, Grünewald, Stephanie, Lehle, Ludwig, Kapusta, Livia, Mandel, Hanna, Wevers, Ron A.
Format: Artigo
Sprog:Inglês
Udgivet: Public Library of Science 2011
Fag:
Research Article
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3248466/
https://ncbi.nlm.nih.gov/pubmed/22242004
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pgen.1002427
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