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Article

Early-onset generalized dystonia caused by a new mutation in the KMT2B gene: Case report

Biomedica : revista del Instituto Nacional de Salud - 2 Sept 2022

Rangel Yully Andrea, Espinosa Eugenia

Abstract excerpt

Introduction: KMT2B-related dystonia is a recently described subtype of focal-onset dystonia in the lower limbs, evolving into a generalized form with cervical, oropharyngeal involvement, dysarthria, swallowing disorder and intellectual disability. Clinical case: We describe the case of a 10-year-old female patient, without a history of consanguinity or neurological disease. She manifested abnormal gait and...

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Identifiers

PMID: 36122281
DOI: 10.7705/biomedica.6296
PMCID: PMC9528928

Provenance

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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