Table 2.
Clinical data of patients.
| Patient | Sex (M/F) | Age at the Time of Biopsy (m) | Diagnosis | Genetic Results | CK Blood Level at Diagnosis (IU/L) | Age at First Walking (m) | Cardiomyopathy Age at Onset (m) | ScoliosisAge at Onset (m) | Scoliosis Surgery/Age at Surgery |
|---|---|---|---|---|---|---|---|---|---|
| Control 1 | M | 41 | control | / | nl | 24 | N | N | N |
| Control 2 | M | 14 | control | / | nl | 24 | N | N | N |
| Control 3 | M | 19 | control | / | nl | 18 | N | N | N |
| CMD 1 | M | 144 | Collagen VI related myopathy | C6210 + 5G > A | nd | 72 | N | Y | Y/145 |
| CMD 2 | F | 144 | CMD | genetic unknown causes | nl | 18 | N | Y/195 | Y/231 |
| CMD 3 | F | 39 | Laminopathy LMNA | c.94–96 deletion; p.lys32 deletion | 860 | never walking | N | N | N |
| CMD 4 | F | 12 | LAMA2 related myopathy | c.1553 deletion GTT; pCys518 deletion and c.2866 deletion T | 14400 | never walking | N | N | N |
| DMD 1 | M | 54 | DMD | c.3–26 duplication | 18000 | 24 | N | N | N |
| DMD 2 | M | 87 | DMD | c.8–43 deletion | nd | 13 | Y/109 | Y/141 | Y/148 |
| DMD 3 | M | 97 | DMD | c.433 C > T substitution (p.R145X) | 12881 | 15 | N | Y/161 | Y/161 |
| DMD 4 | M | 25 | DMD | c.8562 deletion A; p.Glu2854Asp fs X2 | 19000 | 24 | N | N | N |
| DMD 5 | M | 79 | DMD | c.5758 C > T substitution; p.Gln1920X | 8041 | 15 | N | N | N |
| DMD 6 | M | nd | DMD | Exon skipping 19 / IVS 19 +1 G > C/c.2380 + 1 G >C | nd | nd | Y/82 | N | N |
| DMD 7 | M | 89 | DMD | c.50–59 dup | 47270 | 15 | N | N | N |
| DMD 8 | M | nd | DMD | nd | nd | nd | nd | nd | nd |
CMD, congenital muscular dystrophy; DMD, Duchenne muscular dystrophy; M, male; F, female; CK, creatin kinase; IU/L, international unit per liter; nl, normal; Y, yes; N, no; m, month; nd, non-determined.