A summary of the disease characteristics exhibited by patients with DM1 in this study
| Family | Patient | Gender | Age* | Disease onset† | Phenotype‡ | CTG repeat size |
|---|---|---|---|---|---|---|
| 1 | 1 | Male | 54 | Late adult | Classical | 330 |
| 2 | Male | 30 | Early adult | Classical | 690 | |
| 2 | 3 | Female | 30 | Early adult | Mild | 350 |
| 4 | Female | 31 | Early adult | Mild | 97 | |
| 5 | Male | 5 | Birth | Congenital | 596 | |
| 3 | 6 | Male | 60 | Late adult | Classical | 270 |
| 7 | Male | 30 | Early adult | Classical | 570 | |
| 4 | 8 | Male | 44 | Early adult | Classical | 550 |
| 5 | 9 | Male | 32 | Early adult | Classical | 520 |
*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.