Heterozygous POLG variant Ser1181Asn co-segregating in a family with autosomal dominant axonal neuropathy, proximal muscle fatigability, ptosis, and ragged red fibers

Dohrn MF1 2, Heller C3 4, Zengeler D3 4, Obermaier CD3 4, Biskup S3 4, Weis J5, Nikolin S5, Claeys KG6 7, Schöne U8, Beijer D9, Winter N10, Achenbach P8 5, Gess B8, Schulz JB8 11, Mulahasanovic L3 4
  1. Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany. mdohrn@ukaachen.de.
  2. Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA. mdohrn@ukaachen.de.
  3. Praxis Für Humangenetik Tübingen, Tuebingen, Germany.
  4. CeGaT GmbH, Tuebingen, Germany.
  5. Institute of Neuropathology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  6. Department of Neurology, University Hospitals Leuven, Leuven, Belgium.
  7. Laboratory for Muscle Diseases and Neuropathies, KU Leuven, Leuven, Belgium.
  8. Department of Neurology, Medical Faculty, RWTH Aachen University, Aachen, Germany.
  9. Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine, Miami, FL, USA.
  10. Department of Neurology and Epileptology, Hertie Institute for Clinical Brain Research, University of Tuebingen, Tuebingen, Germany.
  11. JARA-BRAIN Institute Molecular Neuroscience and Neuroimaging, Forschungszentrum Jülich GmbH and RWTH Aachen University, Aachen, Germany.