Figure 3.

Results of MitoExome sequencing. Rare, protein-modifying variants were prioritized, revealing a homozygous c.1672C > T (p.R558C) missense mutation in exon 8 of WFS1 that has previously been reported in a patient with Wolfram syndrome [9].

Lieber et al. BMC Medical Genetics 2012 13:3   doi:10.1186/1471-2350-13-3
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