A significant portion of patients with neuromuscular disease remain without a genetic diagnosis, and most neuromuscular disorders still lack a cure. Our work is crucial for providing proper diagnoses and ultimately developing therapies for these patients. (6/6)

While our main interest are neuromuscular disorders caused by mutations in the titin (TTN) and nebulin (NEB) genes, there are many other projects always going on in the group. (5/6)

… to investigate nutrition and self-reported functioning in persons with neuromuscular diseases, and to evaluate therapeutic interventions. (4/6)

Our research aims to identify the genetic variants causing neuromuscular disorders, to understand the normal structure and function of muscle and their alterations in disease, … (3/6)

Our team, led by Dr. Marco Savarese, studies different aspects of hereditary myopathies and muscular dystrophies, continuing the work of the Carina Wallgren-Pettersson and Bjarne Udd groups at FHRC. (2/6)