N.P.3 04 A novel Pro105Thr mutation in the MPZ gene causes late onset CMT2 disease with hearing impairment

Abstract

Only 10% of mutations in the Myelin Protein Zero (MPZ) gene are associated with Charcot-Marie-Tooth type 2 (CMT2) disease. The phenotype of CMT2 disease caused by mutations in the MPZ gene is usually characterized by late onset (over 4th decade), marked sensory disturbances, pupillary abnormalities and hearing loss (observed in some patients). MPZ gene analysis in AD CMT2 family basing upon clinical features. Neurological examination, electrophysiological study, audiometry and molecular genetic analysis of the MPZ gene.