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Article

[Phenotypic and genotypic spectrum of KMT2B dystonia. Description of three Colombian patients].

Revista de neurologia - 16 May 2024

Ramón-Gómez J L, Bernal-Pacheco O, Zarante-Bahamón A M, Martínez-Córdoba N, Lince-Rivera I

Abstract excerpt

INTRODUCTION: KMT2B-related dystonia is a childhood-onset movement disorder characterized by focal dystonia of the lower extremities progressing to generalized dystonia with predominant cervical, cranial, and laryngeal involvement. So far, fewer than 100 variants have been reported, the vast majority being de novo mutations. The presenting frame of KMT2B dystonia, with dysmorphology features and other complex...

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Identifiers

PMID: 38743022
DOI: 10.33588/rn.7810.2023279
PMCID: PMC11407470

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