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Entered data are encrypted.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, 1012 patients had registered (535 females) and 711 had received a genetic diagnosis. Demyelinating CMT (65.3%) was more common than axonal CMT2 (24.6%) and intermediate CMT (9.0%). The <jats:italic>PMP22<\/jats:italic> duplication was the most frequent mutation (45.2%), followed by variants in <jats:italic>GJB1<\/jats:italic> and <jats:italic>MPZ<\/jats:italic> (both ~10%) and <jats:italic>MFN2<\/jats:italic> (3.3%) genes. A relatively high mutation rate in some \u201crare\u201d genes (<jats:italic>HSPB1<\/jats:italic> 1.6%, <jats:italic>NEFL<\/jats:italic> 1.5%, <jats:italic>SH3TC2<\/jats:italic> 1.5%) and the presence of multiple mutation clusters across Italy was observed. CMT4A was the most disabling type, followed by CMT4C and CMT1E. Disease progression rate differed depending on the CMT subtype. Foot deformities and walking difficulties were the main features. Shoe inserts and orthotic aids were used by almost one\u2010half of all patients. Scoliosis was present in 20% of patients, especially in CMT4C. Recessive forms had more frequently walking delay, walking support need and wheelchair use. Hip dysplasia occurred in early\u2010onset CMT.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>The Italian CMT Registry has proven to be a powerful data source to collect information about epidemiology and genetic distribution, clinical features and disease progression of CMT in Italy and is a useful tool for recruiting patients in forthcoming clinical trials.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.15860","type":"journal-article","created":{"date-parts":[[2023,5,12]],"date-time":"2023-05-12T10:45:43Z","timestamp":1683888343000},"page":"2461-2470","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":30,"title":["Clinical spectrum and frequency of Charcot\u2013Marie\u2013Tooth disease in Italy: Data from the National CMT Registry"],"prefix":"10.1111","volume":"30","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3850-076X","authenticated-orcid":false,"given":"Chiara","family":"Pisciotta","sequence":"first","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Alessandro","family":"Bertini","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Irene","family":"Tramacere","sequence":"additional","affiliation":[{"name":"Fondazione IRCCS Istituto Neurologico Carlo Besta  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-1442-9604","authenticated-orcid":false,"given":"Fiore","family":"Manganelli","sequence":"additional","affiliation":[{"name":"Universit\u00e0 Federico II di Napoli  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gian Maria","family":"Fabrizi","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Angelo","family":"Schenone","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Genova  Genoa Italy"},{"name":"IRCCS Ospedale Policlinico San Martino  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-9672-4577","authenticated-orcid":false,"given":"Stefano","family":"Tozza","sequence":"additional","affiliation":[{"name":"Universit\u00e0 Federico II di Napoli  Naples Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiziana","family":"Cavallaro","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Federica","family":"Taioli","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Moreno","family":"Ferrarini","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Verona  Verona Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marina","family":"Grandis","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Genova  Genoa Italy"},{"name":"IRCCS Ospedale Policlinico San Martino  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Emilia","family":"Bellone","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Genova  Genoa Italy"},{"name":"IRCCS Ospedale Policlinico San Martino  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Paola","family":"Mandich","sequence":"additional","affiliation":[{"name":"Universit\u00e0 di Genova  Genoa Italy"},{"name":"IRCCS Ospedale Policlinico San Martino  Genoa Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2546-4357","authenticated-orcid":false,"given":"Stefano C.","family":"Previtali","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale San Raffaele  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuri","family":"Falzone","sequence":"additional","affiliation":[{"name":"IRCCS Ospedale San Raffaele  Milan Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Isabella","family":"Allegri","sequence":"additional","affiliation":[{"name":"U.O. 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