Skip to main content
. Author manuscript; available in PMC: 2019 Nov 1.
Published in final edited form as: Mol Genet Metab. 2018 Aug 24;125(3):302–304. doi: 10.1016/j.ymgme.2018.08.005

Figure 1.

Figure 1

A. Pedigree and Sanger variants. Four-generation pedigree shows the affected proband and 8 additional paternal relatives (filled circles and squares). Sanger sequencing of the identified PMP2 c.155T>C, p.(Ile52Thr) variant demonstrates segregation of the variant with the phenotype in the proband, father, and two paternal half-brothers, and absence of the variant in the unaffected mother.

B. Nerve conduction studies of proband. Markedly reduced motor nerve conduction velocities of proband at 21 years were consistent with CMT1 (<38 m/s) demyelinating neuropathy.