Table 2.
Gene | Protein | IHCa,b | EP | SVA | WB | |
---|---|---|---|---|---|---|
DM1 | DM2 | |||||
RYR1 | RYR1 | - | - | no change | exon 70 exclusionc | no change |
CACNA1S | DHPR | - | = | no change | na | no change |
ATP2A1 | SERCA1 | = | = | ↑ | exon 22 exclusion | no change |
ATP2A2 | SERCA2 | na | = | ↑ | na | N > DM2 |
CASQ1 | CASQ1 | na | = | ↑ | na | no change |
CASQ2 | CASQ2 | - | -- | ↑ | na | no change |
TRDN | TRDN | na | = | ↑ | na | DM2 > DM1 |
JPH1 | JPH1 | - | = | ↑ | na | N > DM |
PPP3CA | Calcineurin | na | = | ↑ | na | DM2 > DM1 |
NFATC3 | NFATC3 | na | na | no change | na | DM2 > DM1 |
IHC, immunohistochemistry; EP microarray expression profiling; SVA, splice variant analysis; WB, western blotting; na, not assessed.
Fibres > 30–40 um in diameter, most of which presumably contractile.
Evaluation of protein expression: =, staining similar to healthy control; -, moderately reduced; --, severely reduced.
Statistically significant only in DM2