TürkiyeResearch and clinical trials
Genetic map of 311 CMT patients in Türkiye: recessively inherited types more common
A study published in a journal and reviewed by independent scientists. Even so, a single study is not conclusive; it needs to be replicated.
In Istanbul, 311 CMT patients from 265 families were studied. The most common cause was a duplication of the PMP22 gene. The recessively inherited CMT4 type was the second most common type. In recessively inherited types, the disease was more severe. Of the 21 people using a wheelchair, 16 had these types. A cause was found in 31 genes, and 28 changes were described for the first time.
What does it mean for patients and families?
In Türkiye, rare types may be more common because of consanguineous marriage. These data may lead to genetic test panels suited to Türkiye. Talk to your doctor about diagnosis and follow-up.
Source
Scientific paper: Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants. European Journal of Neurology, 2025. DOI: 10.1111/ene.16572 · PubMed 39776111
The source page was opened and read on October 7, 2026. Summary prepared by the Doktorclub editorial team and translated from Turkish; it has not yet been reviewed by a physician (a scientific board is being set up).
This page is translated from the Turkish original.
Related disease: Charcot-Marie-Tooth disease (CMT)
This page reports a development; it is not a treatment recommendation. Your doctor decides whether a treatment is right for you.