Plectin‐related scapuloperoneal myopathy with treatment‐responsive myasthenic syndrome

The human plectin gene (PLEC ) on chromosome 8q24 codes for a 4,684 amino acids large protein whose isoforms are key for the functional and structural organization of filamentous cytoskeletal networks, thereby contributing to fundamental biomechanical properties of mechanical stress‐bearing tissues. Plectinopathies thus far comprise five autosomal‐recessive entities, including epidermolysis bullosa simplex with muscular dystrophy (EBS‐MD), EBS‐MD with myasthenic syndrome (EBS‐MD‐MyS), limb girdle muscular dystrophy type 2Q, EBS with pyloric atresia, skin‐only EBS; and the autosomal‐dominant variant EBS‐Ogna.