Hereditary Polyneuropathy Experience of a Tertiary Single-Center in Türkiye: Beyond the Tip of the Iceberg.

Sixty-seven patients from 63 families referred for suspected hereditary polyneuropathies (2018-2025) were clinically stratified by phenotype and electrophysiology, and a diagnostic workflow integrating PMP22 MLPA with clinical or whole-exome sequencing was applied.

PMP22-related neuropathies accounted for 43.5% of all diagnosed cases, with a group-specific yield of 60%.

Among the non-PMP22 CMT group, the predominant inheritance pattern was autosomal recessive (70%).

Two dual molecular diagnoses (PMP22/MCCC1; MPZ/CRYBB2) were established.