Mohammed Athamneh, Nassam Daya, Andreas Hentschel, Andrea Gangfuss, Tobias Ruck, Adela Della Marina, Ulrike Schara-Schmidt, Albert Sickmann, Anne-Katrin Güttsches, Marcus Deschauer, Corinna Preusse, Matthias Vorgerd, Andreas Roos
Bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix (ECM), were linked to a neuromuscular disorder with manifestation in child- or adulthood. Clinical findings indicate a neuromyopathy presenting with muscle weakness. Given that pathophysiological processes are still incompletely understood, and biomarkers are still missing, we aimed to identify blood biomarkers of pathophysiological relevance: white blood cells (WBC) and plasma derived from six VWA1-patients were investigated by proteomics...
April 2024: Journal of Cellular and Molecular Medicine