Figure 3. CLC-1 Western blot on patient biopsies.

Western blot shows total amount of ClC-1 protein in muscle tissue. Total protein amount in a patient compound heterozygous for R894X and W118G is almost normal. The protein amount in heterozygous c.264G>A combined with R894X or F413C, as well as in homozygous R894X, is clearly reduced/almost absent. Ponceau stained actin as a loading control. Hez = heterozygous; hoz = homozygous.