25 August 2025
: Case report 
Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter
Patient complains / malpractice, Rare disease
Junying Zhu ABDEF 1, Shimiao Dai BDE 1, Yao Li E 1, Miaomiao Ma E 1, Ming Chu DE 2, ZhiQiang Lin
DE 3, Litao Sun ABDE 1,4, Ji-Chang Zhou ABDEG 1,5*
DOI: 10.12659/AJCR.947400
Am J Case Rep 2025; 26:e947400
Figure 2 Identification of the peripheral myelin protein 22 gene (PMP22) mutation. (A, B) Direct sequencing analysis revealed a G-to-C transversion in Case 1 and her mother (Case 2), which alters the amino acid sequence from tryptophan (Trp) to cysteine (Cys) at codon 39 [c.117G>C; p.(Trp39Cys)]. (C) The c.117G>C mutation in PMP22 was not detected in the patient’s father.