case_images: PMC5438005_01
case_images: Family pedigree.
case_images: CNCS-5-020-01.jpg
case_images: PMC5438005_01_CNCS-5-020-01.jpg
case_images: Figure1
case_images: His family pedigree is illustrated in Figure 1.
case_images: Results of whole exome sequencing.
case_images: CNCS-5-020-02.jpg
case_images: PMC5438005_01_CNCS-5-020-02.jpg
case_images: Figure2
case_images: Whole exome sequencing revealed a mitochondrial MT-TW tRNA change at position m.5538G>A with 30% heteroplasmy (HTP) in blood as well as several variants of unknown significance in genes associated to diseases that do not correlate with patient's phenotype or may only have a slight contribution to symptoms as illustrated in Figure 2.