Dystrophinopathies are a spectrum of X-linked muscular disorders associated with pathogenic/likely pathogenic variants in the dystrophin (DMD). Most often, these diseases affect men, while women are typically asymptomatic carriers and do not exhibit clinical symptoms. However, to this day, there has been an increasing number of reported cases of dystrophinopathy manifesting in women. In our study, we present a cohort of 30 women exhibiting clinical symptoms of dystrophinopathy, all of whom carry a heterozygous pathogenic variant in the dystrophin gene. In 20 cases, whole-genome sequencing was performed, ruling out other genetic variants that could account for similar phenotypic manifestations of muscular dystrophy. In three cases, a translocation was suspected based on genomic analysis, and a standard cytogenetic was subsequently conducted. In all other cases, no variants were identified that could explain the phenotype of muscular dystrophy, except for pathogenic variants in the DMD. It discusses the importance of mutation screening in the DMD for women presenting with muscular dystrophy symptoms and investigating carrier status in relatives of patients with Duchenne/ Becker muscular dystrophy.