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. Author manuscript; available in PMC: 2011 Jul 1.
Published in final edited form as: Muscle Nerve. 2010 Jul;42(1):14–21. doi: 10.1002/mus.21650

Table 2.

Histopathology features.

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

Inline graphic Amyloid in muscle biopsy; ND= not done.