A novel compound heterozygous TH mutation in a Japanese case of dopa-responsive dystonia with mild clinical course

Affiliations

• ¹ Department of Pediatrics, Ehime Prefectural Central Hospital, Kasuga-cho 83, Matsuyama City, Ehime, 790-0024, Japan.
• ² Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Kuramoto-cho 3-18-15, Tokushima City, 770-0042, Japan. Electronic address: tkawarai@tokushima-u.ac.jp.
• ³ Department of Clinical Neuroscience, Institute of Biomedical Sciences, Tokushima University Graduate School, Kuramoto-cho 3-18-15, Tokushima City, 770-0042, Japan.
• ⁴ Laboratorio di Neurogenetica, Centro Europeo di Ricerca sul Cervello (CERC) - Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS) Santa Lucia, Via del Fosso di Fiorano 64, Rome 00143, Italy; Dipartimento di Scienze Chirurgiche e Biomediche, Università di Perugia, Piazza Lucio Severi 1, Perugia 06132, Italy.
• ⁵ Yoshiko Nomura Neurological Clinic for Children, Yushima 1-2-13, Bunkyo-ku, Tokyo, 113-0034, Japan.
• ⁶ Department of Pediatrics, Ehime University Graduate School of Medicine, 454 Shitsukawa, Toon, Ehime, 791-0295, Japan.
• ⁷ Department of Pediatrics, Osaka City University Graduate School of Medicine, Asahimachi 1-5-7, Abeno-ku, Osaka City, 545-8586, Japan.