Table 1.
Demographics of the study participants.
| Clinical severity | 5 | 4 | 3 | 2 | 1 | 5 cDM - Severe |
4 cDM - Mod |
3 Moderate adult |
2 Mild adult |
1 Normal | ||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Condition | Age | Sex | CTG Repeats | Prox - Mod Severe | Distal + Proximal | Only distal | Min - Myotonia | Normal | Not independent | Independent | With hypersomnia | No hypersomnia | With hypersomnia | No hypersomnia | ||
| Subject 1 | DM1 | 25 | F | 500 | X | X | ||||||||||
| Subject 2 | DM1 | 54 | F | 75 | X | X | ||||||||||
| Subject 3 | DM1 | 44 | F | 542 | X | X | ||||||||||
| Subject 4 | DM1 | 42 | F | 129 | X | X | ||||||||||
| Subject 5 | DM1 | 32 | F | 368 | x | x | ||||||||||
| Subject 6 | DM1 | 32 | F | 250–350 | X | X | ||||||||||
| Subject 7 | DM1 | 26 | F | 536 | X | X | ||||||||||
| Subject 8 | DM1 | 31 | M | DMPK expansion | X | X | ||||||||||
| Subject 9 | DM1 | 26 | F | DMPK expansion | X | X | ||||||||||
| Subject 10 | DM1 | 54 | F | 714 | X | X | ||||||||||
| Subject 11 | DM1 | 41 | F | 1,005 | X | X | ||||||||||
| Subject 12 | CTL | 62 | M | |||||||||||||
| Subject 13 | CTL | 33 | F | |||||||||||||
| Subject 14 | CTL | 55 | M | |||||||||||||
| Subject 15 | CTL | 42 | M | |||||||||||||
| Subject 16 | CTL | 30 | M | |||||||||||||
DM1, Myotonic Dystrophy Type 1; Y, Years; CTG, cytosine, thymine, and guanine.
CTG repeat sizes were obtained from clinical genetic testing reports when available. Precise repeat counts were not uniformly available for all participants, precluding correlation analyses between repeat length and proteomic findings. One participant had documentation of DMPK expansion without specific repeat quantification.