Heterozygous POLG variant Ser1181Asn is associated with autosomal dominant neuro-myopathy in one family with no further specific manifestations of mitochondrial syndrome
Neurol Res Pract. 2022 Jul 11;4(1):34.
doi: 10.1186/s42466-022-00197-6.
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.