Figure 7.

Impact of genetic subtype and milder GAN phenotype on functional assessments. Functional measures MFM-32 total percentage score, NIS and FARS plotted by mutation status. The box plots represent the 25th and 75th percentiles within each group, with whiskers defined as: upper limit: Q3 +1.5 (IQR) or lower limit: Q1 −1.5 (IQR). Predicted CRIM negative refers to those participants with biallelic null mutations. Functional outliers, or those with the milder GAN (‘axonal CMT-plus’) phenotype (n = 10), are denoted with grey circles. CRIM-negative participants do not ever manifest with the milder GAN phenotype, and on average tended to perform similar or slightly worse on functional scales compared to the CRIM-positive individuals, as demonstrated by a lower median MFM32 percentage score and higher median NIS and FARS score.