Table 1.
Clinical characteristics of human muscle biopsies
| Code | Diagnosis | Age | Sex | Muscle | GMW scale | Mutation |
|---|---|---|---|---|---|---|
| C1 | Control | 27 | M | Gluteus | ||
| C2 | Control | 14 | F | Dorsal (T4–T11) | ||
| C3 | Control | 46 | M | Vastus lateralis | ||
| C4 | Control | 64 | F | Gluteus | ||
| P1 | LGMD2A | 28 | M | Deltoid | II | p.(Lys254Glu)/p.(Pro637Hisfs*25) |
| P2 | LGMD2A | 16 | F | Biceps | II–III | p.(Arg490Trp)/p.(Gly691Trpfs*7) |
| P3 | LGMD2A | 51 | M | Deltoid | IV | p.(Ser479Gly)/p.(Asp665Leufs*18) |
| P4 | LGMD2A | 47 | F | Deltoid | VII | p.(Arg489Trp)/p.(Arg788Serfs*14) |
| DMD | Duchenne | 15 | M | Deltoid | ||
| LG2B | LGMD2B | 54 | M | Tibialis Anterior | ||
| FSH2 | FSH2 | 36 | M | Deltoid | ||
| DM1(m) | DM1 | 56 | M | Deltoid | ||
| DM1(f) | DM1 | 32 | F | Biceps | ||