Table 2. Variability of sarcolemmal protein reduction in several individuals with DTNA-related muscular dystrophy with the same variant DTNA c.1585G>A; p.Glu529Lys (family A) and with variant c.1567_1587del21; p.Gln523_Glu529del7 (family C).
| A.III.2 | A.III.1 | A.II.7 | A.II.2 | C.II.1 | |
|---|---|---|---|---|---|
| Beta-spectrin | ++++ | +++ | ++++ | ++++ | |
| DYS1 | ++ | ++ | ++ | +++ | ++ |
| DYS2 | +++ | + | ++++ | ++ | + |
| DYS3 | + | − | ++++ | + | + |
| Beta-dystroglycan | ++++ | ++ | ++++ | ++ | +++ |
| Alpha-dystroglycan (VIA4) | ++ | + | ++++ | ++ | |
| Alpha-dystroglycan (IIH6) | + | + | +++ | ++ | +++ |
| Alpha-sarcoglycan | +++ | − | ++ | + | + |
| Beta-sarcoglycan | + | ++ | ++ | ++ | + |
| Delta-sarcoglycan | +++ | + | +++ | + | |
| Gamma-sarcoglycan | ++ | + | +++ | + | + |
| Alpha-dystrobrevin | +++ | ++ | + | + | + |
++++ = normal staining; +++ = mildly diminished; ++ = moderately diminished; + = severely diminished; − = absent.