Pathogenic mutation variants in patients with Duchenne or Becker muscular dystrophy

Takeaway

  • The type and location of pathogenic variants significantly varied between de novo and inherited cases of Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD).

Why this matters

  • DMD and BMD are X-linked recessive fatal neuromuscular disorders caused by mutations in the DMD gene, including deletions, duplications, and small mutations.

  • Identifying differences between carrier and de novo variants may help inform clinical trial planning and genetic diagnoses in the future.