Table 1.
Description of the immortalized human skeletal myoblasts used in this study.
| Cell Line | Muscle Biopsy | Patient | Mutations |
|---|---|---|---|
| DYSF2 | Vastus lateralis | 37 year old male | Exon 8:c.855 + 1delG, mRNAdecay Exon 9: c.895G > A, r.895G > A, p.G299R |
| DYSF3 | Vastus lateralis | 36 year old female | Exon 16: c.1448C > A, p.S483X Exon 55:c.*107T > A, 3′UTR |
| AB320 | Quadriceps | 29 year old female | Intron 4: c.342-1G > A Exon 32: c.3516–3517delTT, p.S1173X |
| ER | Quadriceps | 17 year old male | Homozygous Exon 44: c.4882G > A, p.G1628R |