TY - JOUR T1 - The importance of genetic diagnosis for Duchenne muscular dystrophy JF - Journal of Medical Genetics JO - J Med Genet SP - 145 LP - 151 DO - 10.1136/jmedgenet-2015-103387 VL - 53 IS - 3 AU - Annemieke Aartsma-Rus AU - Ieke B Ginjaar AU - Kate Bushby Y1 - 2016/03/01 UR - http://jmg.bmj.com/content/53/3/145.abstract N2 - Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy are caused by mutations in the dystrophin-encoding DMD gene. Large deletions and duplications are most common, but small mutations have been found as well. Having a correct diagnosis is important for family planning and providing proper care to patients according to published guidelines. With mutation-specific therapies under development for DMD, a correct diagnosis is now also important for assessing whether patients are eligible for treatments. This review discusses different mutations causing DMD, diagnostic techniques available for making a genetic diagnosis for children suspected of DMD and the importance of having a specific genetic diagnosis in the context of emerging genetic therapies for DMD. ER -