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Update on KMT2B-Related Dystonia.

Current neurology and neuroscience reports - 25 Nov 2019

Zech Michael, Lam Daniel D, Winkelmann Juliane

Abstract excerpt

PURPOSE OF REVIEW: To summarize the molecular and clinical findings of KMT2B-related dystonia (DYT-KMT2B), a newly identified genetic dystonia syndrome. RECENT FINDINGS: Since first described in 2016, 66 different KMT2B-affecting variants, encompassing a set of frameshift, nonsense, splice-site, missense, and deletion mutations, have been reported in 76 patients. Most mutations are de novo and expected to mediate...

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PMID: 31768667
DOI: 10.1007/s11910-019-1007-y

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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