Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia
This article extends the phenotype of <i>MYH3</i>-associated arthrogryposis to include movement disorders, illustrating a family of four children presenting <i>MYH3</i> skeletal disorders and lingual dystonia. Two homozygous likely pathogenic variants have been identified in the four sibs and appear to be causative for both skeletal and neurological phenotypes.
Authors
- Vinciane Dideberg (ORCID: https://orcid.org/0000-0002-9998-6687)
- Charlotte Mouraux (ORCID: https://orcid.org/0000-0001-9569-9229)
- Frédérique Depierreux (ORCID: https://orcid.org/0000-0001-7949-8611)
- Maria Artesi (ORCID: https://orcid.org/0009-0002-5003-6143)
- Keith Durkin (ORCID: https://orcid.org/0000-0001-7475-6618)
- Claire Fouquet
- Saskia Bulk (ORCID: https://orcid.org/0009-0002-3763-7964)
- David Aktan (ORCID: https://orcid.org/0009-0006-6948-9133)
Institutions
- University of Liège (BE)
Publication Details
- Journal
- Tremor and Other Hyperkinetic Movements
- Published
- 2025-10-27
- DOI
- https://doi.org/10.5334/tohm.1079
- Primary Topic
- Neurogenetic and Muscular Disorders Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- Fonds De La Recherche Scientifique - FNRS