PMC5243894_01
Clinical photographs showing muscle atrophy and foot deformities in the proband aged 5 years, and classical pes cavus with normal muscle bulk in her father aged 30 years
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Fig1
On initial examination, high arched feet were noted in her 30-year old father (see clinical photographs in Fig. 1).
PMC5243894_02
Clinical photographs showing muscle atrophy and foot deformities in the proband aged 5 years, and classical pes cavus with normal muscle bulk in her father aged 30 years
10048_2016_504_Fig1_HTML.jpg
PMC5243894_02_10048_2016_504_Fig1_HTML.jpg
Fig1
On initial examination, high arched feet were noted in her 30-year old father (see clinical photographs in Fig. 1).
Pedigree and screenshot of sequencing data from Mutation Surveyor, showing the reference sequence, proband, father (peripheral blood) and mother. The c.1090C > T, p.(Arg364Trp) heterozygous variant is seen in the proband, and at a level of approximately 20% in her father
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PMC5243894_02_10048_2016_504_Fig2_HTML.jpg
Fig2
Figure 2 shows the pedigree and Sanger sequencing data.
Integrative Genomics Viewer (IGV) screenshot of the c.1090C > T MFN2 pathogenic variant. (a) blood DNA sample and (b) saliva DNA sample from patient's father. The level of mosaicism detected is 21% in the peripheral blood sample and 24% in the saliva sample
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PMC5243894_02_10048_2016_504_Fig3_HTML.jpg
Fig3
This is shown in Fig. 3.  