Molecular Diagnosis in 100% of Dystrophinopathies: Are We There Yet?

Duchenne muscular dystrophy (DMD) is experiencing its renaissance. After being the first muscular dystrophy in which the disease gene has been identified, it is now the first muscular dystrophy to be treated, in some cases, with personalized, dystrophin-restoring therapy.1 In spite of these tremendous advancements in the treatment of DMD, in this issue of Neurology® Genetics, Waddel et al.2 represent the challenges in achieving a genetic diagnosis in a cohort of male patients with elevated serum creatine kinase, dystrophin protein studies suggesting an underlying dystrophinopathy, yet normal multiplex ligation-dependent probe amplification and exomic sequencing.

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