PMC3934698_01
Pedigree of family and electropherograms showing clinical diagnosis of CMT or ET and family members who carry the TRPV4 mutation. The proband is denoted by an arrow. Squares and circles denote males and females, respectively, and diagonal lines represent deceased individuals. Black squares inside of grey shading represent family members diagnosed with CMT and ET, black squares without gray shading represent family members diagnosed with ET only, and gray shading without black squares represents family members diagnosed with CMT only, and open symbols indicate unaffected individuals. M = TRPV4 c.806G>A (p.R269H); W = wild-type allele.
crn-0006-0001-g01.jpg
PMC3934698_04_crn-0006-0001-g01.jpg
F1
We confirmed the presence of the TRPV4 R269H mutation in family members III.2 and III.6 (fig. 1; online suppl. fig. 3). Subject III.10 with CMT type 2C and ET carried the TRPV4 R269H mutation (fig. 1).
PMC3934698_02
Pedigree of family and electropherograms showing clinical diagnosis of CMT or ET and family members who carry the TRPV4 mutation. The proband is denoted by an arrow. Squares and circles denote males and females, respectively, and diagonal lines represent deceased individuals. Black squares inside of grey shading represent family members diagnosed with CMT and ET, black squares without gray shading represent family members diagnosed with ET only, and gray shading without black squares represents family members diagnosed with CMT only, and open symbols indicate unaffected individuals. M = TRPV4 c.806G>A (p.R269H); W = wild-type allele.
crn-0006-0001-g01.jpg
PMC3934698_04_crn-0006-0001-g01.jpg
F1
We confirmed the presence of the TRPV4 R269H mutation in family members III.2 and III.6 (fig. 1; online suppl. fig. 3). Subject III.10 with CMT type 2C and ET carried the TRPV4 R269H mutation (fig. 1).
PMC3934698_03
PMC3934698_04
Pedigree of family and electropherograms showing clinical diagnosis of CMT or ET and family members who carry the TRPV4 mutation. The proband is denoted by an arrow. Squares and circles denote males and females, respectively, and diagonal lines represent deceased individuals. Black squares inside of grey shading represent family members diagnosed with CMT and ET, black squares without gray shading represent family members diagnosed with ET only, and gray shading without black squares represents family members diagnosed with CMT only, and open symbols indicate unaffected individuals. M = TRPV4 c.806G>A (p.R269H); W = wild-type allele.
crn-0006-0001-g01.jpg
PMC3934698_04_crn-0006-0001-g01.jpg
F1
We confirmed the presence of the TRPV4 R269H mutation in family members III.2 and III.6 (fig. 1; online suppl. fig. 3). Subject III.10 with CMT type 2C and ET carried the TRPV4 R269H mutation (fig. 1).