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...

Cijeli opis

Bibliografski detalji

Glavni autori:	Dirk J Lefeber, Arjan P M de Brouwer, Eva Morava, Moniek Riemersma, Janneke H M Schuurs-Hoeijmakers, Birgit Absmanner, Kiek Verrijp, Willem M R van den Akker, Karin Huijben, Gerry Steenbergen, Jeroen van Reeuwijk, Adam Jozwiak, Nili Zucker, Avraham Lorber, Martin Lammens, Carlos Knopf, Hans van Bokhoven, Stephanie Grünewald, Ludwig Lehle, Livia Kapusta, Hanna Mandel, Ron A Wevers
Format:	Artigo
Jezik:	Inglês
Izdano:	Public Library of Science (PLoS) 2011-12-01
Serija:	PLoS Genetics
Online pristup:	http://europepmc.org/articles/PMC3248466?pdf=render
Oznake:	Dodaj oznaku Bez oznaka, Budi prvi tko označuje ovaj zapis!