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25 August 2025 : Case report  China

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 ORCID logo DE 3, Litao Sun ORCID logo ABDE 1,4, Ji-Chang Zhou ORCID logo ABDEG 1,5*

DOI: 10.12659/AJCR.947400

Am J Case Rep 2025; 26:e947400

Figure 1 Family tree for the proband. ‘Square’ – male; ‘circle’ – female; ‘open symbol’ – unaffected carriers; ‘filled symbol’ – affected individual; ‘WT’ – wild-type allele; ‘+/−’ – heterozygous; ‘bold text’ – carrying mutation; PMP22 – peripheral myelin protein 22 gene; SH3TC2 – SH3 domain and tetratricopeptide repeats 2 gene.

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American Journal of Case Reports eISSN: 1941-5923
American Journal of Case Reports eISSN: 1941-5923