Table 1. Demographic and molecular features of the dystrophy type 2 (DM2) patients.
For each patient, the table shows the ID, sex, age, age at onset, repeat length, and structure of the CNBP normal allele characterized by Sanger sequencing, and the estimated repeat length of the expanded allele determined by Southern blotting (–, not available).
| Normal allele | Expanded allele | |||||
|---|---|---|---|---|---|---|
| Sample ID | Sex | Age | Age at onset | Repeat length (bp) | Repeat structure | Repeat length (bp) |
| A1 | F | 75 | 70 | 136 | (TG)24 (TCTG)7 (CCTG)5 GCTG CCTG TCTG (CCTG)7 | 40,000 |
| A2 | M | 27 | 25 | 130 | (TG)17 (TCTG)9 (CCTG)5 GCTG CCTG TCTG (CCTG)7 | 20,000 |
| A3 | M | 21 | – | 132 | (TG)20 (TCTG)8 (CCTG)5 GCTG CCTG TCTG (CCTG)7 | 20,323 |
| A4 | M | 65 | 61 | 122 | (TG)19 (TCTG)9 (CCTG)12 | 32,745 |
| B | F | 49 | 44 | 134 | (TG)21 (TCTG)7 (CCTG)6 GCTG CCTG TCTG (CCTG)7 | 40,000 |
| C | M | 20 | – | 140 | (TG)24 (TCTG)6 (CCTG)7 GCTG CCTG TCTG (CCTG)7 | 29,027 |
| D | M | 44 | 39 | 134 | (TG)19 (TCTG)9 (CCTG)5 GCTG CCTG TCTG (CCTG)7 | 20,000 |
| E | F | 61 | 43 | 134 | (TG)19 (TCTG)9 (CCTG)5 GCTG CCTG TCTG (CCTG)7 | 30,000 |
| F | M | 56 | 50 | 138 | (TG)21 (TCTG)9 (CCTG)5 GCTG CCTG TCTG (CCTG)7 | 39,000 |