autosomal recessive dilated cardiomyopathy due to dolk mutations results from abnormal dystroglycan o-mannosylation常染色体隐性扩张型心肌病由于dolk突变的结果异常dystroglycan o-mannosylation.pdf

Autosomal Recessive Dilated Cardiomyopathy due to DOLK Mutations Results from Abnormal Dystroglycan O-Mannosylation 1,2. 3. 4 1 Dirk J. Lefeber *, Arjan P. M. de Brouwer , Eva Morava , Moniek Riemersma , Janneke H. M. Schuurs- 3 5 6 3 2 Hoeijmakers , Birgit Absmanner , Kiek Verrijp , Willem M. R. van den Akker , Karin Huijben , Gerry 2 3 7 8 9 6 Steenbergen , Jeroen van Reeuwijk , Adam Jozwiak , Nili Zucker , Avraham Lorber , Martin Lammens , 9 3 ¨ 10 5 11 Carlos Knopf , Hans van Bokhoven , Stephanie Grunewald , Ludwig Lehle , Livia Kapusta , Hanna Mandel9, Ron A. Wevers2 1 Department of Neurology, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 2 Department of Laboratory Medicine, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 3 Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Donders Institute for Brain, Cognition, and Behaviour, Nijmegen, The Netherlands, 4 Department of Pediatrics, Institute for Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands, 5 Department of Cell Biology and Plant Biochemistry, University of Regensburg, Regensburg, Germany, 6 Department of Pathology, Radboud Un