PMC4936275_01
Segregation of the MORC2 mutations c.707A>G p.E236G (A, B) and c.754C>T p.R252W (C, D) in additional unrelated Charcot-Marie-Tooth disease type 2 families. The genotypes are shown below individuals who were available for genotyping. Solid symbols denote clinically affected individuals. Arrows denote the individuals in whom the MORC2 mutation was initially identified. Individuals in each generation are counted consecutively from left to right starting with 1.
nihms797055f3.jpg
PMC4936275_01_nihms797055f3.jpg
F3
The index patient (IV-2) is a 27-year-old female who had developmental delay with late walking and a tendency to fall (see Fig 3D). The index individual (III-2; see Fig 3A) had nocturnal seizures as a child, and presented with asymmetric ankle weakness at age 7 years. The index case (III-1) is a sporadic case who presented at age 2 years with asymmetric distal leg weakness that progressed to include the proximal legs such that a modified Gowers maneuver was required for standing (see Fig 3B).