Recurrent de novo missense variant E210K in UBTF causes juvenile dystonia-parkinsonism

Affiliations

• ¹ Department of Paediatrics, National Hospital Organization, Kumamoto Saishun Medical Center, Koshi, Kumamoto, 861-1196, Japan.
• ² Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, 3-18-15, Kuramoto-cho, Tokushima, 770-0042, Japan. tkawarai@tokuhshima-u.ac.jp.
• ³ Faculty of Medicine-Student Laboratory, Tokushima University Graduate School, Tokushima, Japan.
• ⁴ Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC), Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Fondazione Santa Lucia, Rome, Italy.
• ⁵ Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Perugia, Italy.