FROM THE SPINAL CORD TO THE MUSCLE

Dysferlinopathies are a group of muscular dystrophies caused by recessive mutations in the DYSF gene encoding the dysferlin protein. These muscular dystrophies, which affect at least 5,000 people in the world, are characterised by skeletal muscle degeneration and weakness. Dysferlin is a transmembrane protein located in the muscle fibers sarcolemma. This protein is involved in several muscle cell functions like T tubule formation, vesicle...