Fig. 1
From: Novel homozygous mutations in Pakistani families with Charcot–Marie–Tooth disease
Five Pakistani consanguineous pedigrees with autosomal recessive CMT. Genotypes of pathogenic or likely pathogenic mutations are indicated at the bottom of all the examined family members. Black and white symbols represent affected and unaffected individuals, respectively. The affected individuals subjected to whole exome sequencing are indicated by an asterisk (□: male, and ○: female). a PaC2 family with c.2599C > T (p.Gln867*) in SH3TC2, b PaC3 family with c.3650G > A (p.Gly1217Asp) mutation in SH3TC2, c PaC4 family with c.19C > T (p.Arg7*) mutation in HK1, d PaC6 family with c.247delG (p.Gly83Alafs*44) mutation in REEP1, and e PaC14 family with c.334G > A (p.Val112Met) mutation in MFN2