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 3 Identification of the SH3 domain and tetratricopeptide repeats 2 gene (SH3TC2) mutation. (A, C) Direct sequencing analysis revealed a C-to-T transversion in Case 1 and her father, which alters the amino acid sequence from threonine (Thr) to methionine (Met) at codon 277 [c.830C>T; p.(Thr277Met)]. (B) The c.830C>T mutation in SH3TC2 was not detected in the patient’s mother (Case 2).