Deletion, duplication, point and other small mutations can cause Duchenne muscular dystrophy1,3,4
Knowing the mutation type can be helpful for medical management options, and the possibility of enrolling into clinical trials.4,5
Large mutations can be detected using multiplex ligation-dependent probe amplification (MLPA). Small deletions, such as nonsense mutations, require gene sequencing. 4
Only genetic testing can identify the dystrophin gene mutation type; this is important for genetic counselling, prenatal diagnosis and considering mutation-specific therapies
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