Figure 3.

Correlation of CMTESv2 and disease duration in the three commonest missense variants causing CMT2A. The disease duration was calculated by subtracting the age of onset from the age at assessment at the baseline visit. The dashed line represents the linear regression coefficient (R²). (A) 24 patients with a heterozygous mutation at the p.Arg94– amino acid position had CMTESv2 data at their baseline visit. This subgroup includes patients with the variants p.Arg94Trp, p.Arg94Gln, p.Arg94Gly and p.Arg94Leu; the correlation between CMTESv2 and disease duration in this group is statistically significant (two-tailed Spearman’s ρ 0.65, P < 0.001). (B) Thirteen patients carrying the heterozygous variant p.Arg364Trp had CMTESv2 data at their baseline visit and the correlation between CMTESv2 and disease duration is statistically significant (two-tailed Spearman’s ρ 0.72, P = 0.0054). (C) Eighteen patients with a heterozygous variant at the p.Trp740– amino acid position had CMTESv2 data at their baseline visit and the correlation between CMTESv2 and disease duration is statistically significant (two-tailed Spearman’s ρ 0.58, P = 0.011).