{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,9]],"date-time":"2026-10-09T01:45:08Z","timestamp":1791510308702,"version":"4.3.4"},"reference-count":31,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2021,7,5]],"date-time":"2021-07-05T00:00:00Z","timestamp":1625443200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2021,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>This study aimed to describe the clinical, genetic, and epidemiological features of Charcot\u2010Marie\u2010Tooth disease (CMT) in Brazilian patients from a tertiary center, and to compare our data with previously published findings. This retrospective observational study conducted between February 2015 and July 2020 evaluated 503 patients (94 families and 192 unrelated individuals), diagnosed with CMT. Clinical and neurophysiological data were obtained from electronic medical records and blood samples were used for genetic analyses. Multiplex ligation\u2010dependent probe amplification was used to assess duplications\/deletions in <jats:italic>PMP22<\/jats:italic>. Sanger sequencing of <jats:italic>GJB1<\/jats:italic> was performed in cases of suspected demyelinating CMT. Targeted gene panel sequencing was used for the remaining negative demyelinating cases and all axonal CMT cases. The first decade of life was the most common period of disease onset. In all, 353 patients had demyelinating CMT, 39 had intermediate CMT, and 111 had axonal CMT. Pathogenic or likely pathogenic variants were identified in 197 index cases. The most common causative genes among probands were <jats:italic>PMP22<\/jats:italic> (duplication) (n\u00a0=\u00a0116, 58.88%), <jats:italic>GJB1<\/jats:italic> (n\u00a0=\u00a023, 11.67%), <jats:italic>MFN2<\/jats:italic> (n\u00a0=\u00a012, 6.09%), <jats:italic>GDAP1<\/jats:italic> (n\u00a0=\u00a07, 3.55%), <jats:italic>MPZ<\/jats:italic> (n\u00a0=\u00a06, 3.05%), <jats:italic>PMP22<\/jats:italic> (point mutation) (n\u00a0=\u00a06, 3.05%), <jats:italic>NEFL<\/jats:italic> (n\u00a0=\u00a03, 1.52%), <jats:italic>SBF2<\/jats:italic> (n\u00a0=\u00a03, 1.52%), and <jats:italic>SH3TC2<\/jats:italic> (n\u00a0=\u00a03, 1.52%). Other identified variants were \u22641% of index cases. This study provides further data on the frequency of CMT subtypes in a Brazilian clinical\u2010based population and highlights the importance of rarer and previously undiagnosed variants in clinical practice.<\/jats:p>","DOI":"10.1111\/jns.12458","type":"journal-article","created":{"date-parts":[[2021,7,1]],"date-time":"2021-07-01T06:18:55Z","timestamp":1625120335000},"page":"290-297","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["<scp>Charcot\u2010Marie\u2010Tooth<\/scp> disease: Genetic profile of patients from a large Brazilian neuromuscular reference center"],"prefix":"10.1111","volume":"26","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-7763-7745","authenticated-orcid":false,"given":"Eduardo Boiteux","family":"Uch\u00f4a Cavalcanti","sequence":"first","affiliation":[{"name":"SARAH Network of Rehabilitations Hospitals  Bras\u00edlia Distrito Federal 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