Figure 1 Pedigrees of the CMT2A families. Markers D1S489, MFN2intr6 and SNP rs1042842 are located, respectively, in intron 2, intron 6 and exon 19 of MFN2, whereas D1S2667, N1S11.95, N1S12.00 and N1S12.7 map in the immediate vicinity of the gene. Markers N1S11.95, MFN2intr6 and N1S12.7 are microsatellite sequences starting respectively at positions 11954818, 11981194 and 12006003 of the chromosome 1 assembly (UCSC hg18, NCBI Build 36.1). Boxes indicate the at risk haplotype cosegregating with the p.A383V (*) mutation in both families.