Figure 1.

The quantitative, clinical and genetic characterization of the relatives tested for known family mutations. (A) The annual number of samples received for family investigations of known genetic variants from 2004–2010. For completeness, 4 individual samples received 2002–2003 were included because their families were otherwise investigated 2004–2010. (B) The indications for molecular genetic testing, and the number of relatives within the 41 families. (C) The gene variants and number of affected relatives who tested positive within the 26 families. (D) Clinical details reported in association with positive testing of affected family members. Group1: Polyneuropathy/CMT without further specifications. Group 2: Detailed description of a classical CMT phenotype. Group 3: As 2, but more severe. Group 4: As in 2, but with additional features that may be seen in association with the investigated genes. Group 5: Description of a phenotype with symptoms that are atypical for the CMT phenotype. (E) Age at presymptomatic testing in relation to positive and negative findings. (F) Age at testing in family studies of uncertain variants and the proportion of healthy and affected relatives.