Multisystemic neurodegeneration caused by biallelic pentanucleotide expansions in RFC1

Affiliations

• ¹ Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ² Department of Neuroradiology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
• ³ Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany; Center for Rare Diseases, University of Tuebingen, Tuebingen, Germany.
• ⁴ Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany; NGS Competence Center Tuebingen (NCCT), University of Tuebingen, Tuebingen, Germany.
• ⁵ Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany. Electronic address: s.zittel-dirks@uke.de.