New Nonsense Variant c.2983G>T; p.Glu995* in the CACNA1A Gene Causes Progressive Autosomal Dominant Ataxia

Yannic Saathoff 1, Saskia Biskup 2 3, Claudia Funke 3, Christian Roth 1 4
  1. Department of Neurology and Neurophysiology, DRK-Kliniken Nordhessen, Kassel, Germany.
  2. Center for Genomics and Transcriptomics (CeGaT) GmbH, Tuebingen, Germany.
  3. Practice for Human Genetics, Tuebingen, Germany.
  4. Department of Neurology, University of Marburg, Marburg, Germany.