case_images: PMC3855386_01
case_images: Family trees for the three Cases.. The arrow indicates the proband; "+" indicates the presence of the mutation; na = DNA not available. For Case III no relatives were recruited at the time of this report.
case_images: pone.0082292.g001.jpg
case_images: PMC3855386_01_pone.0082292.g001.jpg
case_images: pone-0082292-g001
case_images: Analysis extended to the relatives revealed the same mutation in the mother and the maternal uncle. (Figure 1). Family studies were attempted but samples were not available at the time of report (Figure 1).