case_images: PMC7310450_01
case_images: 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
case_images: 40673_2020_117_Fig1_HTML.jpg
case_images: PMC7310450_01_40673_2020_117_Fig1_HTML.jpg
case_images: Fig1
case_images: 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).