Hereditary Polyneuropathies in the Era of Precision Medicine: Genetic Complexity and Emerging Strategies.

Abstract excerpt

Hereditary polyneuropathies represent a genetically and clinically heterogeneous group of disorders affecting the peripheral nervous system, characterized by progressive motor, sensory, and autonomic impairment. Advances in molecular genetics have identified key causative genes, including PMP22, MPZ, MFN2, TTR, EGR2, and CX32 (GJB1), which are implicated in Charcot-Marie-Tooth disease, Dejerine-Sottas syndrome,...

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