AR and Duchenne muscular dystrophy: There are also other extremely rare cases of DMD-like girls: cases without chromosomal translocation but presenting with complete skewed inactivation of the normal X-chromosome in skeletal muscle (38, STG personal communication); girls with two pathogenic variants (4, AF personal communication); girls exhibiting uniparental disomy with a pathogenic DMD variant; or coexistence of a pathogenic DMD variant with a pathogenic androgen receptor variant in a phenotypically female individual with a 46,XY karyotype [35].