Skip to main content
. 2018 Jul 24;91(4):e319–e330. doi: 10.1212/WNL.0000000000005869

Figure 1. Pedigrees of the 3 families included in the study and location of the identified homozygous SQSTM1 mutations.

Figure 1

(A) Family trees. Squares indicate males; circles indicate females. Solid symbols indicate affected individuals; open symbols represent unaffected relatives. (B) Sequence chromatograms showing homozygosity for the SQSTM1 mutations identified in affected members of the 3 families. (C) Functional and structural domains of SQSTM1 and localization of the identified mutations. KIR = Keap1-interacting; LIR = LC3-interaction region; PB1 = Phox 1 and Bem1p; TRAF6 = tumor necrosis factor receptor–associated factor 6; UBA = ubiquitin-associated; ZZ = zinc finger.