Closed
Targeted gene under study
VWA1/#611901
Abstract
We recently described a new form of distal hereditary motor neuropathy caused by bi-allelic variants in the VWA1 gene in 10 families (PMID: 33559681). We would like to include more new patients to delineate the phenotypic and genetic spectrum of the disorder. Our initial findings suggested that the clinical presentation ranges from motor neuropathies to myopathies. We would like to receive detailed clinical and genetic data of patients with bi-allelic VWA1 variants.
Coordinating clinicians/researchers
Arman Cakar – a.cakar@ucl.ac.uk
Reza Maroofian – r.maroofian@ucl.ac.uk
Institution
The UCL Queen Square Institute of Neurology
Specific requirements beyond clinical data and genotype data sharing:
- Re-analysis of DNA samples: No
- Resampling of patients: No
- Linked to a translational/basic research project: No