Fig. 2

A novel mutation in the ACADM gene results in aberrant splicing. Gel documentation visualizes the PCR product of a region of 323 bp from exon 7 to 9 of the ACADM gene in cDNA of control granulocytes (CTL GRAN) as well as of monocytes (MNC) and granulocytes (GRAN) of patient 1. Arrows point to the additional PCR products that were detected using cDNA of the patient’s granulocytes and monocytes. Analysis of the two additional PCR products in the gel eluates of the patient’s samples revealed missplicing resulting in either a partial loss of exon 8 (fragment of 294 bp, upper arrowhead) or complete skipping of exon 8 (fragment of 215 bp, lower arrowhead)