Patients enrolled in this study and transcriptome analysis results

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.

Exp Neurobiol 2014;23:169~172
© Exp Neurobiol