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Article

Review of the phenotype of early-onset generalised progressive dystonia due to mutations in KMT2B.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Mar 2018

Gorman K M, Meyer E, Kurian M A

Abstract excerpt

In 2016, two research groups independently identified microdeletions and pathogenic variants in the lysine-specific histone methyltransferase 2B gene, KMT2B in patients with early-onset progressive dystonia. KMT2B-dystonia (DYT28) is emerging as an important and frequent cause of childhood-onset progressive generalised dystonia and is estimated to potentially account for up to 10% of early-onset generalised...

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Identifiers

PMID: 29289525
DOI: 10.1016/j.ejpn.2017.11.009

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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