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. 2018 Jul 24;19(4):215–225. doi: 10.1007/s10048-018-0555-7

Fig. 1.

Fig. 1

Pedigree of the CMT-P family and electropherograms showing the PNKP c.1549C>T variant. All members of the original family affected with CMT2B2 are homozygous for the mutant allele leading to a c-terminal nonsense mutation at codon 517