- A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up
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Closas AMFD, Lohmann K, Tan AH, Ibrahim NM, Lim JL, Tay YW, Muthusamy KA, Ahmad-Annuar AB, Klein C, Lim SY
- KMID: 2539026
- J Mov Disord.
- 2023 Jan;16(1):91-94.
- doi: 10.14802/jmd.22109
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... -
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