During an epidemiological, clinical and genetical study of hereditary polyneuropathies in the region of Molise (Italy), we observed a large family affected by Charcot-Marie-Tooth disease type 1A of wich we describe the clinical phenotype. Affected subjects underwent genetical and electrophysiological analyses to ascertain the presence of duplication into the chromosomal band 17p11.2 and to evaluate sensitive and motor nerve conduction velocities. The results showed a highly variable clinical expression even in the presence of the same genetic defect and electrophysiological alterations. We hypotesize that such variability in clinical phenotype could be due to exogenous or additional genetic factors.
|Translated title of the contribution||A family affected with Charcot-Marie-Tooth disease type 1A with wide phenotypical variability. A clinical and electrophysiological study|
|Journal||Nuova Rivista di Neurologia|
|Publication status||Published - Jan 1999|
ASJC Scopus subject areas
- Clinical Neurology