Saskia Bulk
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Saskia Bulk has a total of 7 co-authors. Here are the top co-authors by number of shared publications:
- Charlotte Mouraux
Rare Movement Disorders (RMD) Research Group, GIGA – CRC in vivo imaging unit, University of Liege, Liege, Belgium
1 shared publication Claire Fouquet
Department of Human Genetics, University Hospital of Liège, Liège, Belgium
1 shared publication- David Aktan
Rare Movement Disorders (RMD) Research Group, GIGA – CRC in vivo imaging unit, University of Liege, Liege, Belgium
1 shared publication - Frédérique Depierreux
Rare Movement Disorders (RMD) Research Group, GIGA – CRC in vivo imaging unit, University of Liege, Liege, Belgium
1 shared publication - Keith Durkin
Laboratory of Human Genetics, GIGA Research Institute, Liège, Belgium
1 shared publication - Maria Artesi
GIGA - CRC Human Imaging - Rare Movement Disorders Research Group, University of Liège, Liège, Belgium
1 shared publication
Latest Publications
- Open Access
- 27 October 2025
- Published by Ubiquity Press, Ltd. in Tremor and Other Hyperkinetic Movements
- Vol. 15 (1) , 53
Homozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia
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 of MYH3-associated arthrogryposis to include movement disorders, illustrating a family of four children presenting MYH3 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.
- 27 October 2025
- Published by Ubiquity Press, Ltd. in Tremor and Other Hyperkinetic Movements
- Vol. 15 (1) , 53
Open AccessHomozygous Pathogenic MYH3 Variants Associated With Arthrogryposis and Lingual Dystonia
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 of MYH3-associated arthrogryposis to include movement disorders, illustrating a family of four children presenting MYH3 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.