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Article

A severe case of status dystonicus caused by a de novo KMT2B missense mutation.

European journal of medical genetics - 1 Nov 2020

Nakamura Sadao, Chinen Yasutsugu, Satou Kazuhito, Tokashiki Takashi, Kumada Satoko, Yanagi Kumiko, Kaname Tadashi, Naritomi Kenji, Nakanishi Koichi

Abstract excerpt

Here, we present the case of a 15-year-old Japanese girl with Dystonia 28, childhood-onset; DYT28 (MIM#606834) showing early-onset generalized progressive dystonia and status dystonicus. The patient was genetically undiagnosed and had not responded to various medications. By trio-based whole exome sequencing and in silico analyses, we identified a de novo heterozygous variant of KMT2B: NM_014727.2: c.7828C > T,...

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Identifiers

PMID: 32877735
DOI: 10.1016/j.ejmg.2020.104057

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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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