Article

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

2024-07-03

Abstract excerpt

<title>Abstract</title> <p><bold>Background/Objectives:</bold> <italic>KMT2B</italic>-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 epi-signature methodology to functionally validate 2 variants of uncertain significance (VUS) in the <ital...

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Literature Corpus work: 58a5a632-b593-5871-9acf-e7b71d73a2e8
DOI: 10.21203/rs.3.rs-4557638/v1

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