Variant repeat interruptions may have a protective effect in myotonic dystrophy type 1

Takeaway

  • People with myotonic dystrophy type 1 (DM1) who have variant repeat interruptions (RIs) in the DMPK CTG repeat tract exhibit milder symptoms than people with pure repeats (PRs).

Why this matters

    In the future, this may aid in prognostics and inform intervention strategies across a wide range of people with DM1.