Omics approach and novel biostatistic tools identified RPL3L as potential genetic modifier of clinical severity in female carriers of Duchenne muscle dystrophy

Duchenne muscular dystrophy (DMD) female carriers are usually clinically asymptomatic. Nevertheless exceptions are reported and manifesting carriers can develop symptoms, varying from a mild muscle weakness to a DMD-like phenotype. The molecular mechanism underlying the clinical heterogeneity in female carriers is unknown and other modifiers, either genetics or environmental, could play a role. We adopted a combined approach based on omics studies associated with bioinformatics and novel statistical tools, in order to identify genetic modifiers influencing the symptomatic phenotype in a group of DMD female carriers.