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Pedigree of the family with CMT2D and genetic data. (a) Pedigree of the family with CMT2D. Asterisks represent individuals seen in clinic, numbers on left are ages at diagnosis, and the arrow shows the proband. The symbol “E” stands for epilepsy. (b) represents the chromatogram showing the “C” to “A” change (asterisk), and (c) a portion of the highly conserved core catalytic domain (red) where the mutated serine residue is highlighted and conserved from humans to flies (asterisk)
