The presence of clinical manifestations in female DMD carriers can be explained by (1) a DMD pathogenic variant in both alleles [34], (2) one DMD variant in the only X chromosome due to uniparental disomy or Turner syndrome (45,X) [35,36], or (3) a skewed XCI resulting in the inactivation of the wild-type allele and expression of the mutant allele, harbouring either a single nucleotide or structural variant [37]. This evidence concerns the gene DMD and Turner syndrome.