A Familial Case of Childhood Ataxia with Leukodystrophy Due to Novel POLR1C Mutations

Affiliations

• ¹ Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
• ² Department of Radiology, Seoul National University College of Medicine, Seoul, Korea.
• ³ Department of Biomedical Sciences, Seoul National University College of Medicine, Seoul, Korea.
• ⁴ Department of Pediatrics, Gachon Institute of Genome Medicine and Science, Gil Medical Center, Gachon University College of Medicine, Incheon, Korea. mickeyjin@gachon.ac.kr.
• ⁵ Department of Pediatrics, Pediatric Clinical Neuroscience Center, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea. chaeped1@snu.ac.kr.