Overview of repeats

Duchenne muscular dystrophy (DMD) is the most common and lethal type of muscular dystrophies as described by Kekou et al. (2016). Typically, DMD is known to be caused by large deletions and duplications in the DMD gene, but it has been found that repeat expansions can be disease-causing as well. 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).

→ View STRipy's population-wide repeat data for DMD locus