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The LMNA mutation p.Arg321Ter associated with dilated cardiomyopathy leads to reduced expression and a skewed ratio of lamin A and lamin C proteins
Authors:Rasha Al-Saaidi  Torsten B Rasmussen  Johan Palmfeldt  Peter H Nissen  Abdelaziz Beqqali  Jakob Hansen  Yigal M Pinto  Thomas Boesen  Jens Mogensen  Peter Bross
Institution:1. Research Unit for Molecular Medicine, Aarhus University and Aarhus University Hospital, Aarhus, Denmark;2. Department of Cardiology, Aarhus University Hospital, Aarhus, Denmark;3. Department of Clinical Biochemistry, Aarhus University Hospital, Aarhus, Denmark;4. Heart Failure Research Center, Academic Medical Center, Amsterdam, The Netherlands;5. Department of Forensic Medicine, Bioanalytical Unit, University of Aarhus, Denmark;6. Department of Molecular Biology and Genetics, University of Aarhus, Denmark;g Department of Cardiology, Odense University Hospital, Odense, Denmark
Abstract:
Keywords:Dilated cardiomyopathy  LMNA  Laminopathies  Premature termination codon mutation  Nonsense mediated mRNA decay  Haploinsufficiency
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