case_images: PMC3365131_01
case_images: Family pedigree and mutation segregation. Pedigree of the patient and her family where the white circles represent normal women, the filled circle the affected woman, and white squares normal men. Deceased individuals are shown with a slanted line across the symbol. The segregation of mutation is also shown where the mutant nucleotide c.916T is depicted in red lettering; the wild-type c.916G in green lettering.
case_images: mv-v18-1253-f1.jpg
case_images: PMC3365131_01_mv-v18-1253-f1.jpg
case_images: f1
case_images: To identify the genetic cause of the disease in the patient, blood samples were collected by venipuncture in EDTA vacutainer tubes (Becton Dickinson, Franklin Lakes, NJ) from the patient and the available family members (Figure 1).