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

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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Detaylı Bibliyografya
Asıl Yazarlar: Dirk J. Lefeber, Arjan P.M. de Brouwer, Éva Morava, Moniek Riemersma, Janneke Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M.R. van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jóźwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A. Wevers
Materyal Türü: Artigo
Dil:İngilizce
Baskı/Yayın Bilgisi: 2011
Online Erişim:https://doi.org/10.1371/journal.pgen.1002427
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002427&type=printable
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https://doi.org/10.1371/journal.pgen.1002427
https://journals.plos.org/plosgenetics/article/file?id=10.1371/journal.pgen.1002427&type=printable

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