PMC3855386_01
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.
pone.0082292.g001.jpg
PMC3855386_01_pone.0082292.g001.jpg
pone-0082292-g001
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).