Genotype and phenotype characterization of pediatric myotonic dystrophy type 1

Takeaway

  • Myotonic dystrophy type 1 (DM1) adopts different forms, each of which express varying cytosine-thymine-guanine (CTG) expansions that in turn impacts disease manifestations.

Why this matters

  • Greater insight into the genetic determinants of DM1 can assist physicians with clinical profiling and subsequent management.