Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia.

ABSTRACT:

Introduction

Heterozygous pathogenic variants in MYH3 are known to be responsible for distal arthrogryposis.

Case report

We report a consanguineous family of four children with two likely pathogenic MYH3 homozygous variants associated with complex movement disorders, especially prominent lingual dystonia, along with skeletal abnormalities. The two variants in MYH3 (c.3445G>A and c.4760T>C) have already been described in patients with congenital arthrogryposis. No other significant variation was found using long-read whole genome sequencing.

Discussion

We have extended the phenotype of MYH3-associated arthrogryposis to include movement disorders, which may have been underdiagnosed to date.

Highlights

This article extends the phenotype

SUBMITTER: Mouraux C 

PROVIDER: S-EPMC12577538 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature