A KMT2B frameshift variant causing focal dystonia restricted to the oromandibular region after long-term follow-up

• Main Authors: Closas, Alfand Marl F. Dy, Lohmann, Katja, Tan, Ai Huey, Ibrahim, Norlinah Mohamed, Lim, Jia Lun, Tay, Yi Wen, Muthusamy, Kalai Arasu, Ahmad Annuar, Azlina, Klein, Christine, Lim, Shen -Yang
• Format: Article
• Published: Korean Movement Disorders Soc 2023
• Subjects: RC0321 Neuroscience. Biological psychiatry. Neuropsychiatry
• Online Access: http://eprints.um.edu.my/38984/

KMT2B-linked dystonia (DYT-KMT2B) is a childhood-onset dystonia syndrome typically beginning in the lower limbs and progressing caudocranially to affect the upper limbs with eventual prominent craniocervical involvement. Despite its recent recognition, it now appears to be one of the more common mon...