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In this study, we aimed to analyze the genetic spectrum and describe phenotypic features in a large cohort from T\u00fcrkiye.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Demographic and clinical findings were recorded. Patients were initially screened for <jats:italic>PMP22<\/jats:italic> duplication. Targeted sequencing or whole\u2010exome sequencing was performed in duplication\u2010negative patients.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Overall, 311 patients from 265 families were included. Demyelinating CMT (67.4%) was more common than axonal (20.5%) and intermediate subtypes (11.7%). <jats:italic>PMP22<\/jats:italic> duplication was the most frequent mutation, followed by pathogenic variants in <jats:italic>GJB1<\/jats:italic>, <jats:italic>MFN2<\/jats:italic>, <jats:italic>SH3TC2<\/jats:italic>, and <jats:italic>GDAP1<\/jats:italic> genes. <jats:italic>MPZ<\/jats:italic>\u2010neuropathy was rare in our cohort (3.0%). Interestingly, CMT4 is the second most common type after CMT1. Lower extremity weakness and foot deformities were the most frequent presenting complaints. Striking clinical features included a high frequency of scoliosis in <jats:italic>SH3TC2<\/jats:italic>, peripheral hyperexcitability in <jats:italic>HINT1<\/jats:italic>, and central nervous system findings in <jats:italic>GJB1<\/jats:italic>. Autosomal recessive CMT subtypes had higher CMTESv2 scores when compared to autosomal dominant ones (12.39\u2009\u00b1\u20094.81 vs. 8.36\u2009\u00b1\u20094.15, <jats:italic>p<\/jats:italic>: 0.023). Twenty\u2010one patients used wheelchairs during their last examination. Among them, 16 had an autosomal recessive subtype. Causative variants were identified in 31 genes, including 28 novel pathogenic or likely pathogenic changes.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusions<\/jats:title><jats:p>Our findings provided robust data regarding the genetic distribution of CMT in T\u00fcrkiye, which may pave the path for building population\u2010specific diagnostic gene panels. Rare autosomal recessive subtypes were relatively frequent in our cohort. By analyzing genotype\u2013phenotype correlations, our data may provide clinical clues for clinicians.<\/jats:p><\/jats:sec>","DOI":"10.1111\/ene.16572","type":"journal-article","created":{"date-parts":[[2025,1,8]],"date-time":"2025-01-08T12:00:51Z","timestamp":1736337651000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["Delineating the genetic landscape of Charcot\u2013Marie\u2013tooth disease in T\u00fcrkiye: Distinct distribution, rare phenotypes, and novel variants"],"prefix":"10.1111","volume":"32","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-8129-4172","authenticated-orcid":false,"given":"Arman","family":"Cakar","sequence":"first","affiliation":[{"name":"Neuromuscular Unit, Neurology Department, Istanbul Faculty of Medicine Istanbul University  Istanbul 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