Takeaway
New technologies have allowed development of an assay to reproducibly measure changes in the Charcot-Marie-Tooth disease 1A (CMT1A)-specific gene, peripheral myelin protein 22 (PMP22) in dermal skin biopsies; results were normalized against Schwann cell (SC)-specific genes that are independent of CMT1A status.
Why this matters
This sensitive assay has the potential to measure changes in PMP22 in skin biopsies of people with CMT1A to assess effects of therapeutic approaches.