Adult-onset distal myopathy with predominant hand involvement as a rare phenotype of plectinopathy

Classic phenotypes of plectinopathies include epidermolysis bullosa simplex and muscular dystrophy with proximal distribution, associated or not with skin blistering. However, in recent years, patients manifesting new muscular phenotypes including lower-limb distal weakness have been described. We aim to expand the phenotypic spectrum of plectinopathies by reporting a case presenting with a pure skeletal myopathy with predominant upper-limb distal weakness. We describe this distal myopathy phenotype providing comprehensive clinical, genetic, myopathological and radiological data. Genetic studies identified two truncating variants in PLEC.