Article
Charcot-Marie-Tooth disease: genetic subtypes in the Sardinian population.
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 Jun 2017
Lorefice Lorena, Murru Maria Rita, Coghe Giancarlo, Fenu Giuseppe, Corongiu Daniela, Frau Jessica, Tranquilli Stefania, Tacconi Paolo, Vannelli Alessandro, Marrosu Giovanni, Mamusa Elena, Cocco Eleonora, Marrosu Maria Giovanna
Abstract excerpt
Charcot-Marie-Tooth disease (CMT) is characterised by great variability of genetic subtypes. This study aimed to assess the genetic subtypes of CMT disease in the Sardinian population. Genetic screening was performed for CMT cases (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]). A total of 1,043 subjects (119 index cases) were evaluated. In CMT1 index cases (69/119; 58%),...
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