STRs database » DMD locus
Gene DMD
Location Intron in Xp21.2-p21.1
Reference region chrX:31284557-31284605 (hg38)
chrX:31302674-31302722 (hg19)
Repeat unit GAA
Repeat type Standard
Distribution of repeats in a superpopulation
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

Disease(s) and range of repeats
Disease Onset Inheritance Normal Intermediate Pathogenic
Duchenne muscular dystrophy (DMD) Paediatric/Adult X-linked recessive 11-33 - ≥59