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Article

[A case of generalized dystonia DYT28 with a novel de novo mutation in the KMT2B gene].

Rinsho shinkeigaku = Clinical neurology - 26 Nov 2022

Hara Kenju, Ouchi Haruka, Hamanaka Kohei, Miyatake Satoko, Matsumoto Naomichi

Abstract excerpt

The patient exhibited plantarflexion during walking at the age of five. He then developed writer's cramp at the age of six, dysphonia at 15 years, and action-induced dystonia with left knee elevation and trunk swinging when walking at 16 years, which subsequently spread to the right leg at 19 years. Levodopa therapy was ineffective for dystonia. Brain MRI showed no abnormalities. He was diagnosed with DYT28 after...

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Identifiers

PMID: 36288966
DOI: 10.5692/clinicalneurol.cn-001773

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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