Table 1 Clinical, biochemical and molecular characteristics of patients, before treatment.
CLINICAL FORM | ID | SEX | AGE AT ONSET | BMI | WALK INDEPENDENTLY (Y/N) | MECHANICAL VENTILATION (Y/N) | PEG (Y/N) | GENOTYPE (Allele 1/Allele 2) | DEPLETION (relative to normal) | MULTIPLE DELETIONS (Y/N) | CK (UI/l) | BASAL GDF-15 (pg/mL) | BASAL FGF-21 (pg/mL) |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
GROUP 1 (started treatment <16) | 1 | F | 23 m | <P3 | N | N | N | p.Lys202del/p.Asp177Tyr | 25% | N | 1183 | 15.000 | 1373 |
2 | M | 30 m | <P3 | N | Y | NGT | p.His121Asn/p.His12Asn | 50% | Y | 538 | 4608 | 402 | |
3 | M | 17 m | P3 | N | Y | NGT | p.Tyr208Cys/p.Arg130Trp | 15% | N | 148 | 14756 | 3013 | |
4 | M | 15 m | <P3 | N | Y | N | p.His121Asn/p.Arg192Lys | 13% | N | 284 | ND | ND | |
5 | M | 13 m | <P3 | N | Y | NGT | p.Thr108Met/Leu215Pro | ND | ND | 872 | 21641 | 4088 | |
6 | M | 13 m | <P3 | N | Y | NGT | p.Thr108Met/Leu215Pro | ND | ND | 949 | 22767 | 3244 | |
7 | M | 13 m | <P3 | N | N | N | p.Lys85*/p.Pro154Leu | ND | ND | 921 | 27066 | 7531 | |
8 | M | 24 m | ND | ND | ND | ND | p.Thr108Met/p.Thr108Met | ND | ND | 285 | 4597 | ND | |
9 | M | 31 m | ND | ND | ND | ND | p.Thr108Met/p.Thr108Met | 8% | ND | 626 | 6825 | ND | |
10 | F | 3 y | P3 | Y | Y | NGT | p.Asn58Ser/p.Asn58Ser | ND | ND | 1789 | 4797 | 809 | |
11 | M | 3 y | P50 | Y | N | N | p.Asn58Ser/p.Asn58Ser | ND | ND | 1036 | 2641 | 398 | |
12 | F | 2 y | P50 | Y | N | N | p.His121Asn/p.Arg183Trp | ND | ND | 460 | 3686 | 786 | |
13 | F | 2 y | P50 | Y | N | N | p.His121Asn/p.Arg183Trp | ND | ND | 945 | 3841 | 471 | |
14 | M | 3 y | P3 | N | Y | N | p.His121Asn/p.Arg183Trp | ND | ND | 184 | 5006 | 1057 | |
15 | F | 6 y | <P3 | Y | N | N | p.Asn58Ser/p.Asn58Ser | ND | ND | 742 | 2781 | 595 | |
GROUP 2 (started treatment >16) | 16 | F | > 12 y | 13.86 | Y | Y | N | p.Thr108Met/p.Thr108Met | 17% | Y | 2435 | 2423 | 666 |
17 | M | 50 y | 27.7 | Y | Y | N | p.Lys202del/p.Lys202del | 66% | Y | 357 | 1529 | 252 | |
18 | F | 30 y | 27.12 | Y | Y | N | p.Lys202del/p.Lys202del | 60% | Y | 294 | 1695 | 353 | |
19 | F | 20 y | 17.79 | Y | Y | Y | p.Thr108Met/p.Thr108Met | 39% | Y | 303 | 2439 | 197 | |
20 | F | 60 y | 26.01 | Y | Y | N | p.Lys202del/p.Lys202del | ND | ND | 647 | 2483 | 897 | |
21 | M | 30 y | 23.7 | Y | N | N | p.Lys202del/p.Lys202del | ND | Y | 350 | 1640 | 185 | |
22 | F | 5 y | 26.17 | Y | Y | N | p.Thr108Met/p.Thr108Met | ND | Y | 548 | 2149 | 943 | |
23 | F | 30 y | ND | Y | Y | N | p.Thr108Met/p.Thr108Met | 53% | Y | 233 | 1261 | 190 | |
24 | F | 20 y | 20,5 | Y | Y | GT | p.Lys202del/p.Ala420Val | ND | ND | 1142 | 1979 | 179 | |
25 | F | 50 Y | 28,7 | Y | Y | N | p.Lys202del/p.Lys202del | ND | Y | 405 | ND | ND | |
26 | F | 14 Y | 24,5 | Y | Y | N | p.Thr108Met/p.Thr108Met | 19% | Y | 425 | ND | ND |
