Biochemistry. BiokhimiiaFemaleHumansCharcot-Marie-Tooth DiseaseMutationNerve Tissue Proteins
Relationships of GDAP1 Mutations to Disease Phenotype and Mechanisms of Therapeutic Action of Oxidative Metabolism Activators in a Patient with Charcot-Marie-Tooth Neuropathy Type 2K.
Nadejda R Borisova, Alina A Emelyanova, Olga N Solovjeva, Natalia V Balashova, Olga P Sidorova, Victoria I Bunik
Published: 202510.1134/S0006297925601911
Abstract
The development of personalized medicine, including the treatment of hereditary diseases, requires translation of advances in biochemistry into medical practice. Our work is dedicated to solving this problem in a clinical case of hereditary Charcot-M…
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