RT Journal Article
SR Electronic
T1 The importance of genetic diagnosis for Duchenne muscular dystrophy
JF Journal of Medical Genetics
JO J Med Genet
FD BMJ Publishing Group Ltd
SP 145
OP 151
DO 10.1136/jmedgenet-2015-103387
VO 53
IS 3
A1 Annemieke Aartsma-Rus
A1 Ieke B Ginjaar
A1 Kate Bushby
YR 2016
UL http://jmg.bmj.com/content/53/3/145.abstract
AB 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.