Table 3

A summary of the disease characteristics exhibited by patients with DM1 in this study

FamilyPatientGenderAge*Disease onset†Phenotype‡CTG repeat size
11Male54Late adultClassical330
2Male30Early adultClassical690
23Female30Early adultMild350
4Female31Early adultMild97
5Male5BirthCongenital596
36Male60Late adultClassical270
7Male30Early adultClassical570
48Male44Early adultClassical550
59Male32Early adultClassical520
  • *Age of patient at time of molecular testing.

  • †Early adulthood: 20–49 years old; late adulthood: >50 years old.

  • ‡Phenotype classification as described by Kamsteeg and colleagues.

  • DM1, myotonic dystrophy type 1.