PMC5438005_01
Family pedigree.
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Figure1
His family pedigree is illustrated in Figure 1.
Results of whole exome sequencing.
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Figure2
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.