ArticleJournal of movement disorders2023
A KMT2B Frameshift Variant Causing Focal Dystonia Restricted to the Oromandibular Region After Long-Term Follow-up.
Article in Journal of movement disorders, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Who cites it
4 citing papers in PubMed.
- The Spectrum of Abnormal Tongue Movements: Review of Phenomenology, Etiology, and Differential Diagnosis.Movement disorders clinical practice · 2026Review
- New insights from a Malaysian real-world deep brain stimulation cohort.Journal of Parkinson's disease · 2025Article
- Genetic Update and Treatment for Dystonia.International journal of molecular sciences · 2024Review
- KMT2B-Related Dystonia in Indian Patients With Literature Review and Emphasis on Asian Cohort.Journal of movement disorders · 2023Article
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Authors and funding
10 authors.
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Abstract
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 monogenic causes of dystonia syndromes. Here, we present an atypical case of DYT-KMT2B with oromandibular dystonia as the presenting feature, which remained restricted to this region three decades after symptom onset. This appears to be the first reported case of DYT-KMT2B from Southeast Asia and provides further supporting evidence for the pathogenic impact of the KMT2B c.6210_6213delTGAG variant.
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