DMD and Duchenne muscular dystrophy: Two females with a clinical diagnosis of Duchenne muscular dystrophy have been described with biallelic out‐of‐frame DMD variants, one with uniparental isodisomy of the X chromosome in conjunction with a homozygous deletion of exon 50 (Quan et al., 1997) and a second with compound heterozygous DMD deletions of exons 48–50 and exons 51–53 (Takeshita et al., 2017).