The p.Ala2430Val mutation in filamin C causes a hypertrophic myofibrillar cardiomyopathy

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
  1. Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany.
  2. Institute of Neuropathology, Justus Liebig University, Arndstr.16, 35392, Giessen, Germany.
  3. Center for Genomics and Transcriptomics (CeGat) GmbH, Tübingen, Germany.
  4. Department of Cardiac Development and Remodeling, Max Planck Institute for Heart and Lung Research, Bad Nauheim, Germany.
  5. Institute of Human Genetics, Technical University of Munich (TUM), Munich, Germany.
  6. Pediatric Heart Center, Justus Liebig University, Giessen, Germany.
  7. Department of Child Neurology, Justus Liebig University, Giessen, Germany.
  8. Department of Molecular Cell Biology, Institute for Cell Biology, University of Bonn, Bonn, Germany.

# Contributed equally.