Electrophysiological studies in the different genotypes of Charcot-Marie-Tooth disease.
Electrophysiological studies remain one of the cornerstones in the diagnosis of Charcot-Marie-Tooth syndrome and related genetic neuropathies. They are helpful in defining the subtypes of this heterogeneous group of hereditary neuropathies and in differentiating them from acquired neuropathies. Major advances in defining the molecular genetics of Charcot-Marie-Tooth disease are occurring. The increasingly refined diagnosis of these disorders is highlighted. It is possible by the combination of electrophysiological studies and genetic testing. These developments are especially important for practicing neurologists as they can result immediately in more specific diagnosis of patients with inherited neuropathies.
England
J D
JD
Department of Neurology, Louisiana State University Medical Center, New Orleans 70112-2822, USA.
Garcia
C A
CA
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis* / Q000503:physiopathology; D017630:Connexins / Q000235:genetics; D005838:Genotype; D006801:Humans; D009431:Neural Conduction / Q000502:physiology; D017354:Point Mutation; D014960:X Chromosome; D000097002:Gap Junction beta-1 Protein
D017630:Connexins; D000097002:Gap Junction beta-1 Protein