Figure 1.

PCK2 variants are associated with peripheral neuropathy

(A) Pedigrees from two families with biallelic variants in PCK2.

(B) Nerve conduction studies (NCS) from right tibial nerve. In patient P.2-1, NCS showed low proximal and distal compound muscle action potential (CMAP) amplitudes (2.5 mV and 0.79 mV, respectively) with reduced conduction velocity (31.1 m/s) and temporal dispersion. In patient P.2-2, NCS showed low proximal and distal CMAP amplitudes (0.89 mV and 0.25 mV, respectively) with reduced conduction velocity (32.3 m/s) and temporal dispersion.

(C) Reduction in PCK2 activity in fibroblast lysates from patients harboring biallelic PCK2 variants (Con., unrelated normal control).

(D) Western blot of fibroblast lysates from patients P.1 and P.2-1 and from two unrelated controls. Actin was provided as a loading control.