Studio clinico ed elettrofisiologico di una famiglia affetta da malattia di Charcot-Marie-Tooth tipo 1A con ampia variabilità fenotipica

Translated title of the contribution: A family affected with Charcot-Marie-Tooth disease type 1A with wide phenotypical variability. A clinical and electrophysiological study

Giovanni Battista Colazza, Francesco Pierelli, Claudio Carissimi, Maria Damiano, Daniela Fortini, Carlo Casali, Carmelo D'Alessio, Giampiero Soldati, Pasquale Linfante, Cristoforo Morocutti

Research output: Contribution to journalArticle

Abstract

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 contributionA family affected with Charcot-Marie-Tooth disease type 1A with wide phenotypical variability. A clinical and electrophysiological study
Original languageItalian
JournalNuova Rivista di Neurologia
Volume9
Issue number1
Publication statusPublished - Jan 1999

ASJC Scopus subject areas

  • Clinical Neurology

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    Colazza, G. B., Pierelli, F., Carissimi, C., Damiano, M., Fortini, D., Casali, C., D'Alessio, C., Soldati, G., Linfante, P., & Morocutti, C. (1999). Studio clinico ed elettrofisiologico di una famiglia affetta da malattia di Charcot-Marie-Tooth tipo 1A con ampia variabilità fenotipica. Nuova Rivista di Neurologia, 9(1).