PMC7310450_01
Pedigrees of Families 1 and 2 and Sanger sequencing for PDYN. The numbers below the symbols indicate the age (in years, y) at examination and the age at death (d) for the deceased individuals (indicated by the strikethrough). The probands are indicated by the arrows
40673_2020_117_Fig1_HTML.jpg
PMC7310450_01_40673_2020_117_Fig1_HTML.jpg
Fig1
Sanger sequencing confirmed that four patients (Family 1: I-2, II-1, and II-8; Family 2: II-1) were heterozygous for this variant, and one patient (Family 1: II-4) was homozygous for this variant (Fig. 1).