Figure 1.

The gaps in genetic diagnosis in CMT. While novel gene discovery for CMT has been very successful over the past decade, the average diagnostic yield remains under 40% for CMT2 and under 75% for all CMT. Close to 60% of genetically resolved CMT families can be attributed to less than 10 genes, yet over 90 loci are associated with the disease. Many of these loci resolve a small percentage of CMT – sometimes as few as one or two families. Since additional Mendelian disease genes alone have not closed these diagnostic gaps, exploration of non-Mendelian factors is necessary.