Figure 1. Compound heterozygous VRK1 mutations in adult-onset distal spinal muscular atrophy and childhood amyotrophic lateral sclerosis.

(A) Segregation of compound heterozygous sequence variants in family 1 and 2. Solid symbols indicate affected individuals. Symbols with dots illustrate carriers. Arrows indicate proband. Genotypes are demonstrated below tested individuals. (B) Schematic graph of the VRK1 coding region and the corresponding VRK1 protein shows the position of mutations identified in family 1 (blue) and 2 (green).