Figure 2.

Pedigrees of families 2 (A) and 3 (B). Arrows indicate the index cases in each family. (C,D) Sanger sequencing validation of pathogenic CCM2 variants identified in family 2 (c.169dupA; C) and family 3 (c.134_135delTG; D). Nucleotide and protein sequences are shown above each chromatogram.