A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up

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...

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Detalles Bibliográficos
Autores principales: 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 Binti, Klein, Christine, Lim, Shen-Yang
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Movement Disorder Society 2023
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9978264/
https://www.ncbi.nlm.nih.gov/pubmed/36537064
http://dx.doi.org/10.14802/jmd.22109