Figure 1.

Genetic analyses of a patient identified two different variants in PRNP. (a) Sanger sequencing analysis identified the c.628G>A (p.V210I) variant. Top: Amino acid sequence, Middle: Reference sequence, Bottom: Patient sequence. (b) PCR and gel electrophoresis showing the deletion in the patient's sample (lane 1) as compared to the controls (see figure for key). Sequence analysis determined that the deletion was two repeats [c.202_249del48 (p.P68_Q83del)]. The reference sequence used for PRNP sequencing was NM_000311.3