Table 2.
Immunohistochemistry | Western Blot | |||||
---|---|---|---|---|---|---|
Patient | Dysferlin Membrane | Dysferlin Cytoplasm | Caveolin-3 | Utrophin | Dysferlin | Calpain-3 |
1 | Absent | Absent | Normal | Normal | ND | ND |
2Amyloid | Severely reduced | Absent | Normal | Normal | Absent | Reduced |
3Amyloid | Severely reduced | Present | Normal | Normal | Normal (2-5 fold increased) | Positive |
4 | Severely reduced | Absent | Normal | Normal | Absent | Reduced |
5Amyloid | Severely reduced | Absent | Normal | Upregulated | Absent | Positive |
6Amyloid | Absent | Absent | Reduced | Normal | Absent | Positive |
7 | Severely reduced | Absent | Normal | Normal | ND | ND |
8Amyloid | Absent | Absent | Normal | Normal | Normal (2-5 fold increased | Positive |
9 | Absent | Absent | Normal | Normal | Reduced | Positive |
10 | Severely reduced | Absent | Normal | Normal | Normal (2-5 fold increased | Reduced |
11 | Absent | Absent | Normal | Normal | Absent | Reduced |
12 | Absent | Absent | Normal | Normal | Absent | Positive |
13 | Absent | Absent | Normal | Normal | Absent | Positive |
14 | Absent | Absent | Normal | Normal | Absent | Reduced |
15Amyloid | Severely reduced | Absent | Normal | Upregulated | ND | ND |
16 | ND | ND | ND | ND | ND | ND |
17 | Severely reduced | Absent | Normal | Upregulated | Absent | Reduced |
18 | Severely reduced | Absent | Normal | Upregulated | Absent | Reduced |
19 | ND | ND | ND | ND | ND | ND |
20 | Absent | Absent | Normal | Normal | Absent | Reduced |
21 | Severely reduced | Absent | Normal | Upregulated | Absent | Reduced |
Amyloid in muscle biopsy; ND= not done.