Article
Molecular characterization of Turkish patients with demyelinating Charcot-Marie-Tooth disease.
Neurogenetics - 1 Jul 2022
Karakaya Taner, Turkyilmaz Ayberk, Sager Gunes, Inan Rahsan, Yarali Oguzhan, Cebi Alper Han, Akin Yasemin
Abstract excerpt
Charcot-Marie-Tooth (CMT) disease represents a distinct subgroup of inherited peripheral neuropathies with a significant prevalence throughout the world and manifests both phenotypic and genetic heterogeneity. Electrophysiological studies subclassify CMT mainly as demyelinating or axonal types. In this study, we investigated the molecular characteristics of a Turkish cohort of 23 probands out of 34 symptomatic...
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