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Article

Charcot‐Marie‐Tooth disease: frequency of genetic subtypes in a Southern Italy population

27 Nov 2014

Abstract excerpt

The objective of this study is to assess the genetic distribution of Charcot-Marie-Tooth (CMT) disease in Campania, a region of Southern Italy. We analyzed a cohort of 197 index cases and reported the type and frequency of mutations for the whole CMT population and for each electrophysiological group (CMT1, CMT2, and hereditary neuropathy with susceptibility to pressure palsies [HNPP]) and for familial and...

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PMID: 25429913
DOI: 10.1111/jns.12092

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