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.