Figure 1.

Immunohistochemistry of SERCA1 and SERCA2 in controls and Brody disease. Staining of SERCA1 was reduced in Patient N6 (deltoid muscle), and normal in Patients N2 (quadriceps muscle) and N10 (deltoid muscle). SERCA2 staining was normal in all samples. Interestingly, Patients N6 and N10 carry the same mutation consisting of a large e9 deletion. In the biopsy of Patient N6 (homozygous e9 deletion) SERCA1 staining was reduced, and in the biopsy of Patient N10 (compound heterozygous; e9 deletion and e15 missense mutation) staining was present. This discrepancy is most likely due to the second mutation of Patient N10 having less of an effect on protein expression resulting in normal staining.