In patients with Duchenne muscular dystrophy (DMD), slower progression in lower limb muscle fatty infiltration is seen in patients amenable to exon 8 skipping, and those with nonsense mutations in exons associated with milder phenotypes.
Why this matters?
The clinical heterogeneity of DMD is linked to genetic modifiers of disease progression. However, evidence in literature has not been consistent.
Being able to predict an individual’s disease trajectory will help to tailor patient management, as well as informing clinical trial designs and data interpretation.