X-Linked Charcot-Marie-Tooth Disease in 93 Patients

Abstract

The clinical, electrophysiological and genetic features of 93 patients (41 males, 52 females) from 37 unrelated families with X-linked dominant Charcot-Marie-Tooth (CMTX) disease are reported from the Hopital de la Salpetriere, Paris, France.

Keywords

• electrophysiological and genetic features
• molecular genetic testing
• nonfunctional mutations