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

• Maike F. Dohrn,
• Danique Beijer,
• Lejla Mulahasanovic

Affiliations

Maike F. Dohrn

Department of Neurology, Medical Faculty, RWTH Aachen University

Danique Beijer

Dr. John T. Macdonald Foundation, Department of Human Genetics and John P. Hussman Institute for Human Genomics, University of Miami, Miller School of Medicine

Lejla Mulahasanovic

Praxis für Humangenetik Tübingen