Skip to main content
Fig. 3 | BMC Medical Genomics

Fig. 3

From: Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease

Fig. 3

Homozygosity mapping of the chromosomal regions around the pathogenic mutations for the affected individuals from the consanguineous Pakistani CMT families. Genes and SNP numbers located at the ends of the homozygous blocks (HBs) and their approximate chromosomal positions (indicating by Mbp) are shown at the top and bottom of the maps, respectively. a 16 Mbp HB from FGF1 to THG1L in the PaC2 family with SH3TC2 mutation. b 12 Mbp HB from PKD2L2 to SLC6A7 in the PaC3 family with SH3TC2 mutation. c 38 Mbp HB from PPYR1 to NRG3 in the PaC4 family with HK1 mutation. d 53 Mbp HB from CTNNA2 to MZT2A in the PaC6 family with REEP1 mutation. e 14 Mbp HB from NADK to CLCNKB in the PaC14 family with MFN2 mutation

Back to article page