Table 1.
Myoblast cells used in this study
| Biopsy code | D4Z4 numbera | Phenotype | DUX4b | >70% MIc | Deathd |
|---|---|---|---|---|---|
| 2082 | 8 | FSHD1 | *** | Y | Y |
| 2346 | 6 | FSHD1 | *** | N | N |
| 2391 | 5 | FSHD1 | N.D. | N | N |
| 2084 | 4 | FSHD1 | * | Y | Y |
| 2066 | 7 | FSHD1 | N.D. | Y | N |
| 2349 | 2 | FSHD1 | *** | Y | Y |
| 2088 | 9 | FSHD1 | * | Y | Y |
| 2062 | 15 | FSHD2 | ** | N | N |
| 1881 | 16 | FSHD2 | *** | Y | Y |
| 2305 | 12 | FSHD2 | *** | Y | Y |
| 2401 | 11 | Non-FSHD | N.D. | Y | N |
| 2081 | 74 | Non-FSHD | N.D. | Y | N |
| NR209 | 25 | Non-FSHD | N.D. | Y | N |
DUX4 was detected < 1/106 myoblast nuclei.
N.D., none detected.
aNumber of D4Z4 repeats on the permissive 4qA allele.
bDUX4 positive nuclei in myotubes. *<1%,**<10%, and ***>10%.
cMI; myotube index (% of total nuclei in MHC(+) cells at 48 h).
dMyotube death in cultures after 96 h of differentiation.