STRs database » DMD locus
Overview of repeats
Duchenne muscular dystrophy (DMD) is a severe form of muscular dystrophy as described by Kekou et al. (2016). Typically, DMD is known to be caused by large deletions and duplications in the DMD gene, and the authors proposed an intronic repeat expansion as an additional disease-associated variant in the family they studied. In an intron of the DMD gene, expansions between 59 and 82 GAA repeats were discovered in affected individuals. In the healthy controls, GAA was in the range of 11-33 repeats (Kekou et al. (2016)).
In a subsequent population analysis, Hiatt et al. (2025) found that genotypes meeting the previously proposed expansion threshold occurred in 4.7% of males and 0.09% of females. The authors concluded that the frequency was inconsistent with the severe early-onset disease and that expansion at this particular repeat was unlikely to be pathogenic.