Fig. 1
From: Atypical presentation of Charcot-Marie-Tooth disease type 1C with a new mutation: a case report
The three-generation pedigree of the family carrying a novel dominant variant c.348G > C of the LITAF gene (leading to amino acid substitution p.Trp116Cys). The proband (II.5) is marked with an arrow. All three affected individuals (I.2, II.5, and III.7) were heterozygotes carrying the recessive wt LITAF allele and the dominant mutated LITAF allele. The son (II.8, 2 years old) born in the second marriage of the proband has not yet been screened for the mutated LITAF allele (therefore labelled with a question mark). His probability of carrying the mutated allele c.348G > C was 50%