Jornal de Genética e Terapia Gênica

Pmp22 Gene Analyse, Clinical and Electromyographıc Evoluatıon Charcot-Marie-Tooth in a Single Center Experience

Ayça Nur DEMİR

Charcot‐Marie‐Tooth disease (CMT) is a common hereditary motor and sensory neuropathy.( Sun, Chen, Ling, Yang, & Huang, 2017) This study aimed to analyze the electrophysiological and clinical characteristics of Turkish patients. Total of 22 patients with the clinical diagnosis of CMT were included. Clinical examination, nerve conduction studies (NCS), PMP22 deletion, duplication test performed. In addition, the age of onset, location, severity, surgery, seizure and chronic disease story of all patients were questioned. The patient's family history was searched. For this purpose, a family tree consisting of 3 generations was drawn firstly and the inheritance pattern of the disease was tried to be determined.