^aAge at sural nerve biopsy; ^bFunctional disability scale [6]; ^cCharcot-Marie-Tooth disease neuropathy score [7]; ^dExpressed transcripts were determined as FPKM>1. Original data are available in Supplementary Material; ^eNovel transcripts determined with the Cufflinks program and FPKM>1; ^fGene fusion was analyzed with the deFuse software; ^gNonsynonymous splicing site, stop gain/loss, and coding indels; ^hVariants unreported in dbSNP135; ⁱTranscriptional base modifications; ^jNumber of transcriptome variants that were not identified in the whole-exome analysis; ^kNonsynonymous splicing site, stop gain/loss, and coding indels that are not reported in dbSNP135; ^lcausative gene was not defined.