The p.Ala2430Val mutation in filamin C causes a “hypertrophic myofibrillar cardiomyopathy”
Authors
Anne Schänzer1, Elisabeth Schumann2, Diana Zengeler3, Lisann Gulatz2, Giovanni Maroli4, Uwe Ahting5, Anke Sprengel6, Sabine Gräf2, Andreas Hahn7, Christian Jux6, Till Acker2, Dieter O Fürst8, Stefan Rupp6, Julia Schuld# 8, Peter F M van der Ven# 8
- Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany.
- Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany.
- Center for Genomics and Transcriptomics (CeGat) GmbH, Tübingen, Germany.
- Department of Cardiac Development and Remodeling, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
- Institute of Human Genetics, Technical University of Munich (TUM), Munich, Germany.
- Pediatric Heart Center, Justus Liebig University, Giessen, Germany.
- Department of Child Neurology, Justus Liebig University, Giessen, Germany.
- Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany.
# Contributed equally.