case_images: PMC5243894_01
case_images: 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
case_images: 10048_2016_504_Fig1_HTML.jpg
case_images: PMC5243894_02_10048_2016_504_Fig1_HTML.jpg
case_images: Fig1
case_images: On initial examination, high arched feet were noted in her 30-year old father (see clinical photographs in Fig. 1).
case_images: PMC5243894_02
case_images: 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
case_images: 10048_2016_504_Fig1_HTML.jpg
case_images: PMC5243894_02_10048_2016_504_Fig1_HTML.jpg
case_images: Fig1
case_images: On initial examination, high arched feet were noted in her 30-year old father (see clinical photographs in Fig. 1).
case_images: 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
case_images: 10048_2016_504_Fig2_HTML.jpg
case_images: PMC5243894_02_10048_2016_504_Fig2_HTML.jpg
case_images: Fig2
case_images: Figure 2 shows the pedigree and Sanger sequencing data.
case_images: 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
case_images: 10048_2016_504_Fig3_HTML.jpg
case_images: PMC5243894_02_10048_2016_504_Fig3_HTML.jpg
case_images: Fig3
case_images: This is shown in Fig. 3.  