Figure 4: UPN 904 Munc18-2 Western Blot: The column of the healthy control shows the presence of normal protein Munc18-2 level and internal control (actin). The column of the sample from patient UPN 904 shows the normal presence of the internal control (actin) and the absence of the Munc18- 2 protein. Primary Antibody: Rabbit anti-Munc18-2 5182 (Cambridge Research Biochemicals, CRB) 1:2000. Secondary Antibody: anti-mouse perox (Jackson ImmunoResearch Laboratories, Inc., JIR) 1:20.000 for Munc18-2 membrane