X-linked Charcot-Marie-Tooth disease with connexin 32 mutations Clinical and electrophysiologic study

摘要: Objective: To relate X-linked Charcot-Marie-Tooth disease (CMTX) phenotypes to gender and type of neuropathy by the study a large series CMTX patients with proven Cx32 point mutations. Background: is an form disease, caused mutations in connexin 32 gene. Males are usually more severely affected have slower nerve conduction velocities than females. Methods: Forty-eight from 10 families were examined clinically electrophysiologically. Mutations characterized index cases automatic sequencing detected at-risk individuals polymerase chain reaction (PCR)-restriction or single strand conformation polymorphism (SSCP) analysis. Two different had light electron microscopy examination sural biopsy. Results: (n = 21) females 27), although six disabled. In majority males, median motor velocity (MNCV) was between 30 40 m/s, whereas it ranged normal values. children mutation, 6-year-old boy 7-year-old girl, most patients, amplitude compound muscle action potentials (CMAP) reduced all nerves tested. MNCV as function degree axonal loss. A significant correlation found decrease CMAP median, ulnar, peroneal nerves. Sural biopsies one patient missense nonsense mutation both showed neuropathy. Conclusion: Electrophysiologic histologic findings support primary Clinical electrophysiologic data males gene differed significantly. Furthermore, (Arg22Stop) earlier onset severe phenotype