Figure 1.

cMTFM is due to mutations in G6b-B (G6b). (A) Family pedigrees. Black arrows point to the probands in each family. Double line indicates a consanguineous relationship. Ages are provided at the time of the initial evaluation of the youngest affected individual in the family. (B) Ideograms showing cMTFM linkage region, the G6b (MPIG6B) locus and patient mutations. (C) Expression of p.Gly157Arg mutant in DT40 cells leads to protein instability and (D-E) reduced expression on the surface of the cell (mean ± standard error of the mean [SEM]; n = 2). pcDNA3 vector, blue; G6b-B WT, green; G6b-B p.Gly157Arg, red. Representative blots and histograms of 2 independent experiments. MFI, median fluorescence intensity.