Table 1:
Cohort characteristics
| ID | Sex/Age at diagnosis | Age at PT (yrs) | # of WBMRI Scans | Time (months) between PT and WBMRI | Variant 1 | Variant 2 | Cornstarch dose/dietary therapy |
|---|---|---|---|---|---|---|---|
| 1 | F/9mo | 14.6 | 1 | 0 | c.2309–1G > A | c.4260–12A > G | 1.23 g/kg/day |
| 2 | F/6mo | 13.9 | 0 | NA | Results not available | Results not available | 2.55 g/kg/day Protein supplementation. |
| 3 | F/ 6.7 mo | 15.1 | 3 | 11 | c.2309–1G > A | c.4260–12A > G | 0.7 g/kg/day |
| 4 | F/ 2.5 yo | 17.7 | 1 | 0 | c.293 + 1del | c.413G > A p.Gly138Glu |
0.5 g/kg/day |
| 5 | F/ 18 mo | 12.5 | 0 | NA | c.1276del p.Val426fs |
Not detectable | 6 g/kg/day Protein supplementation |
| 6 | M/ 15 mo | 11.3 | 0 | NA | Results not available | Results not available | 1.2 g/kg/day Protein supplementation |
| 7 | F/ 17 mo | 10.1 | 0 | NA | c.3259 + 3A > T | c.3259 + 3A > T | 0.3 g/kg/day Protein supplementation |
| 8 | F/9mo | 40.9 | 1 | 2 | c.966dup68 | c.2590C > T p.Arg864Ter c.4529dup p.Tyr1510Ter |
0.2 g/kg/day Protein supplementation |
| 9 | F/ 15 mo | 8.4 | 0 | NA | c.3299del p.Gly1100fs |
c.3299del p.Gy1100fs |
1.9 g/kg/day Protein supplementation |
| 10 | F/4yo | 8.2 | 1 | 0 | c.2929C > T p.Arg977Ter |
c.3866 T > C p.Leu1289Pro |
2.32 g/kg/day Protein supplementation |
| 12 | F/1yo | 3.7 | 0 | NA | c.4221dup p.Leu1408fs |
c.4260–12A > G | 6.1 g/kg/day Protein supplementation |
| 13 | M/12yo | 52.2 | 4 | 0 | c.100C > T p.Arg34Ter |
c.2590C > T p.Arg864Ter |
Not on cornstarch therapy Protein supplementation |
| 14 | F/ 12 mo | 14.6 | 1 | 0 | c.1384del p.Trp461_Val462insTer |
c.1384del p.Trp461_Val462insTer |
0.64 g/kg/day Protein supplementation |
| 15 | M/ 16 mo | 9.8 | 4 | 12 | c.3980G > A p.Trp1327Ter |
c.2023C > T p.Arg675Trp |
3.8 g/kg/day Protein supplementation |
| 18 | F(sibling)/4mo | 13.5 | 2 | 0 | c.2681 + 1G > T | c.2681 + 1G > T | 0.73 g/kg/day Protein supplementation |
| 19 | F(sibling)/4mo | 17.2 | 2 | 0 | c.2681 + 1G > T | c.2681 + 1G >T | 0.63 g/kg/day Protein supplementation |
| 21 | F/6mo | 19.4 | 1 | 1 | c.4529dup p.Tyr1510Ter |
c.2309–1G > A | Not on cornstarch therapy |
| 28 | F/ 8 mo | 6.9 | 0 | NA | c.1199 T > C p.Leu400Pro |
c.1199 T > C p.Leu400Pro |
Not on cornstarch therapy |
| 29 | F/18 mo | 58.2 | 0 | NA | Not available | Not available | Not on cornstarch therapy Protein supplementation |
| 32 | F/6mo | 33.6 | 0 | NA | c.410_413del p.Leu137fs |
c.2039G > T | Not on cornstarch therapy |
| 34 | M/8mo | 5.2 | 0 | NA | c.3682C > T p.Arg1228Ter |
c.3235C > T p.Gln1079Ter |
Not on cornstarch therapy |
| 35 | M/2yo | 13.1 | 0 | NA | Exon 3 del | Exon 3 del | Not on cornstarch therapy |
Table 1 abbreviations: NA = Not applicable, PT = Physical Therapy, WBMRI = Whole-body MR1.