Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool

Methylation assay in KMT2B-related dystonia: a novel diagnostic validation tool

Abstract Background/objectives KMT2B-related dystonia (DYT28, OMIM #617284) is a progressive neurological condition characterized by early onset movement disorders with autosomal dominant inheritance. In this study, we describe the use of a genome methylation episignature methodology to functionally...

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Bibliographic Details
Main Authors: Gleyson Francisco da Silva Carvalho, Claudio Melo de Gusmão, Beatriz Martins Wolff, Lucas Liro Vieira, Yanca Gasparini de Oliveira, Mariana Ribeiro Costa, Rafaela da Silva Mendes, Matheus Augusto Araujo Castro, Mayara T. Sakuma, Fernando Kok, Bekim Sadikovic, Leslie Domenici Kulikowski
Format: Article
Language:English
Published: BMC 2024-11-01
Series:Clinical Epigenetics
Subjects:
KMT2B
Methylation
Episignature
VUS
Dystonia
Online Access:https://doi.org/10.1186/s13148-024-01780-1
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