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Charcot-Marie-Tooth disease: experience from a large Italian tertiary neuromuscular center.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2020

Gentile Luca, Russo Massimo, Fabrizi Gian Maria, Taioli Federica, Ferrarini Moreno, Testi Silvia, Alfonzo Annalisa, Aguennouz M'Hammed, Toscano Antonio, Vita Giuseppe, Mazzeo Anna

Abstract excerpt

INTRODUCTION: Charcot-Marie-Tooth (CMT) disease is the most common inherited neuromuscular disease. Thanks to the advances of the latest generation sequencing, more than 80 causative genes have been reported to date. METHODS: In this retrospective, observational study, we have analyzed clinical, electrophysiological, and genetic data of CMT patients in care at Neuromuscular Center of Messina University Hospital,...

Topics

Charcot-Marie-Tooth Disease
Female
Genetic Testing
Humans
Italy
Male
Mutation
Retrospective Studies
Tertiary Care Centers

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PMID: 31902012
DOI: 10.1007/s10072-019-04219-1

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