TY  - GEN
AU  - Lefeber,Dirk J
AU  - de Brouwer,Arjan P M
AU  - Morava,Eva
AU  - Riemersma,Moniek
AU  - Schuurs-Hoeijmakers,Janneke H M
AU  - Absmanner,Birgit
AU  - Verrijp,Kiek
AU  - van den Akker,Willem M R
AU  - Huijben,Karin
AU  - Steenbergen,Gerry
AU  - van Reeuwijk,Jeroen
AU  - Jozwiak,Adam
AU  - Zucker,Nili
AU  - Lorber,Avraham
AU  - Lammens,Martin
AU  - Knopf,Carlos
AU  - van Bokhoven,Hans
AU  - Grünewald,Stephanie
AU  - Lehle,Ludwig
AU  - Kapusta,Livia
AU  - Mandel,Hanna
AU  - Wevers,Ron A
TI  - Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation
SN  - 1553-7404
PY  - 2012///0321
KW  - Adolescent
KW  - Cardiomyopathy, Dilated
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Dolichol Phosphates
KW  - metabolism
KW  - Dystroglycans
KW  - Female
KW  - Gene Expression
KW  - Genes, Recessive
KW  - Glycosylation
KW  - Haplotypes
KW  - Homozygote
KW  - Humans
KW  - Male
KW  - Pedigree
KW  - Phosphotransferases (Alcohol Group Acceptor)
KW  - deficiency
KW  - Saccharomyces cerevisiae
KW  - Sarcolemma
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1371/journal.pgen.1002427
ER  -