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The importance of genetic diagnosis for Duchenne muscular dystrophy
  1. Annemieke Aartsma-Rus1,2,
  2. Ieke B Ginjaar3,
  3. Kate Bushby2
  1. 1Department of Human Genetics, Leiden University Medical Center, Leiden, The Netherlands
  2. 2John Walton Muscular Dystrophy Research Centre and MRC Centre for Neuromuscular diseases, Institute of Genetic Medicine, Newcastle University, Newcastle, UK
  3. 3Laboratory for Diagnostics Genome Analysis, Leiden University Medical Center, Leiden, The Netherlands
  1. Correspondence to Annemieke Aartsma-Rus, LUMC postzone S4-P, Albinusdreef 2, Leiden 2333 ZA, The Netherlands; a.m.rus{at}


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.

  • Muscle disease
  • Diagnosis
  • Genetics

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