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. 2012 Nov 27;79(22):2194–2200. doi: 10.1212/WNL.0b013e31827595e2

Figure 1. CLC-1 immunohistochemical staining of muscle biopsies.

Figure 1

(A) Sarcolemmal staining of ClC-1 in a normal biopsy. Total loss of sarcolemmal ClC-1 protein in (B) R894X homozygous and in (C) compound heterozygous (R894X and W118G) patient samples. (D) Subtotal loss of sarcolemmal ClC-1 protein in a compound heterozygous (F413C and W118G) patient. Patient with (E) compound heterozygous R984X and c.264G>A, (F) compound heterozygous F413C and c.264G>A, and (G) homozygous c.264G>A mutations show total loss of sarcolemmal ClC-1 protein. Arrows indicate where ClC-1 protein should be localized at the sarcolemma.