Fig. 1
From: Clinicopathologic characterization and abnormal autophagy of CSF1R-related leukoencephalopathy
Ten family pedigrees with a diagnosis of HDLS. The pedigrees are shown in the top left, the corresponding chromatograms are shown in the top right, and the mutations located in the highly conserved region of protein are shown in the bottom. a CSF1R c.T1907A (p.I636N) identified only in the proband (II:2), but not in I:1, I:2 or II:1 of Family 1. b CSF1R c.C2026T (p.R676*) identified in two patients (II:2 and II:3), as well as one healthy carrier (II:1) of Family 2. c CSF1R c.C2342A (p.A781E) identified in two patients (II:2 and II:3), as well as one healthy carrier (II:1) of Family 3. d CSF1R c.C2342T (p.A781V) identified in the proband (II:1) of Family 4. e CSF1R c.T2381C (p.I794T) identified in four families: Family 5 (a), Family 6 (b), Family 7 (c), Family 8 (d). f CSF1R c.C2468A (p.A823D) identified in the proband (II:3) of Family 9. g CSF1R c.T2552C (p.L851P) identified in two patients (III:1 and III:3) of Family 10