24. Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome.

July 11, 2022

Maike F Dohrn 1 2, Danique Beijer 3, Lejla Mulahasanovic 4 5

Abstract

No abstract available

  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. 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.
  4. Praxis für Humangenetik Tübingen, Tuebingen, Germany.
  5. CeGaT GmbH, Tuebingen, Germany.