Differential diagnosis of vacuolar myopathies in the NGS era

Dorothea Mair1,2,3,, Saskia Biskup4,Wolfram Kress5, Angela Abicht6, Wolfgang Brück7, Wolfgang Brück7, Karl Christian Knop8, Fatima Barbara Koenig9, Shelisa Tey1, Stefan Nikolin1, Katja Eggermann10, Ingo Kurth10, Andreas Ferbert2, Joachim Weis1.
  1. Institute of Neuropathology, RWTH Aachen University, Aachen, Germany.
  2. Department of Neurology, Kassel School of Medicine, Klinikum Kassel, Kassel, Germany.
  3. University of Southampton, Southampton, UK.
  4. Centre for Genomics and Transcriptomics CeGaT, Tübingen, Germany.
  5. Institute of Human Genetics, University Würzburg, Würzburg, Germany.
  6. Medical Genetics Centre MGZ, Munich, Germany.
  7. Institute of Neuropathology, Göttingen University, Göttingen, Germany.
  8. Neurologie Neuer Wall, Hamburg, Germany.
  9. Institute of Pathology, Klinikum Kassel, Kassel, Germany.
  10. Institute of Human Genetics,RWTH Aachen University, Aachen, Germany