mRNA Sequencing of CMT2A, CMT1A patients and Normal human fibroblasts

We performed RNA sequencing on the 3 CMT2A-causing MFN2 mutations patient cell lines and 3 normal control lines, all cultured in galactose, we found striking transcriptional signature for CMT2A was present. And the CMT2A fibroblast transcriptional signature was >90% different from that of primary fibroblasts from a patient with CMT1 with a duplication mutation within the PMP22 gene. Comparison transcritional signature among CMT2A, CMT1A patients and Normal human fibroblasts