Journal of Neurology Research, ISSN 1923-2845 print, 1923-2853 online, Open Access
Article copyright, the authors; Journal compilation copyright, J Neurol Res and Elmer Press Inc
Journal website http://www.neurores.org

Case Report

Volume 2, Number 3, June 2012, pages 115-118

Partial Deletion of EMD Gene in a Patient With Emery-Dreifuss Muscular Dystrophy

Figures

Figure 1.
Figure 1. Multiplex Ligation-dependent Probe Amplification (MLPA) for dosage of EMD gene. Procedure for test performance was the one described by Shouten et al. [http://www.neurores.org/index.php/neurores/article/view/107/125 9]. For data analysis a global normalisation was achieved by dividing the peak area for each amplification product by the average peak area of all peaks in that sample. Normalised peak areas were compared to the results obtained for several control samples. In the final step, the results obtained were visualised using Excel graphics. In abscissa exons 1 to 6 of EMD gene and in ordinate gene dosage as deduced from peak areas. A) ED25 is the propositus; C1, C2, C3, and C4 are male controls. B) ED29 and ED30 are the mother and sister of the propositus, respectively; C1, C2, C3 are female controls.
Figure 2.
Figure 2. DNA sequence of the 5’ region of EMD gene from patient ED25. A) DNA sequence of the deleted allele at the breakpoint of the deletion (arrow). B) Scheme of EMD gene and deleted region of the 5’ region of EMD gene. Numbered 1-6 shaded blocks indicate exons of EMD gene. Open blocks indicate 5’-UTR and 3’-UTR of FLN1 and EMD genes. Dashed lines enclose the 2640 nucleotides deletion found in patient ED25.