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. 2021 Mar 9;144(6):1819–1832. doi: 10.1093/brain/awab077

Figure 1.

Figure 1

Identification of GGC repeat expansion in the 5′UTR of the NOTCH2NLC gene in OPDM individuals. (A) Pedigree chart of three families with OPDM. The squares indicate males and the circles indicate females. A diagonal line through a symbol indicates a deceased individual. Affected individuals are indicated by filled symbols. All the asterisked individuals had available blood DNA. (B) Visualization on Integrative Genomics Viewer for Patients F1-III8 and S1 revealed DNA reads carrying the mutated repeat unit (chr1:149390780–149390837, hg38 version), corresponding to the GGC repeat expansions in the 5′UTR of the NOTCH2NLC gene.