Determining genetic factors affecting symptom onset and severity in myotonic dystrophy type 1

Takeaway

  • Onset and severity of symptoms in myotonic dystrophy type 1 (DM1) was found to be driven by several CTG repeats at the DMPK locus.

Why this matters

  • This characterization of genetic characteristics at the DMPK locus in DM1 provide baseline data for stratifying people with this disorder and how they might respond to different interventions.