{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,1]],"date-time":"2026-05-01T19:02:46Z","timestamp":1777662166391,"version":"3.51.4"},"reference-count":17,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2019,2,6]],"date-time":"2019-02-06T00:00:00Z","timestamp":1549411200000},"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":[[2019,3]]},"abstract":"<jats:p>Charcot\u2010Marie\u2010Tooth disease type 4 C (CMT4C) is an autosomal recessive form of demyelinating peripheral neuropathy caused by mutations in <jats:italic>SH3TC2<\/jats:italic>, characterized by early onset, spine deformities, and cranial nerve involvement. We screened <jats:italic>SH3TC2<\/jats:italic> in 50 unrelated Greek patients with suspected demyelinating Charcot\u2010Marie\u2010Tooth disease and pedigree compatible with recessive inheritance. All patients had been previously screened for <jats:italic>PMP22<\/jats:italic>, <jats:italic>GJB1<\/jats:italic>, and <jats:italic>MPZ<\/jats:italic> mutations. We found five previously identified pathogenic mutations in <jats:italic>SH3TC2<\/jats:italic> distributed among 13 patients in homozygosity or compound heterozygosity (p. Arg954Stop, Arg1109Stop, Gln892Stop, Ala878Asp, and Arg648Trp). Although most cases had early onset and spine deformities were almost omnipresent, a wide phenotypic spectrum was observed. Particularly notable were two siblings with Roussy\u2010L\u00e9vy syndrome and one patient with young\u2010onset trigeminal neuralgia. In conclusion, mutations in <jats:italic>SH3TC2<\/jats:italic> are responsible for 26% of Greek patients with suspected CMT4, identifying CMT4C as the most common recessive demyelinating neuropathy in the Greek population, in accordance with other Mediterranean cohorts.<\/jats:p>","DOI":"10.1111\/jns.12305","type":"journal-article","created":{"date-parts":[[2019,1,17]],"date-time":"2019-01-17T19:07:22Z","timestamp":1547752042000},"page":"125-130","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":11,"title":["Mutational screening of the <i>SH3TC2<\/i> gene in Greek patients with suspected demyelinating recessive Charcot\u2010Marie\u2010Tooth disease reveals a varied and unusual phenotypic spectrum"],"prefix":"10.1111","volume":"24","author":[{"given":"Zoi","family":"Kontogeorgiou","sequence":"first","affiliation":[{"name":"Neurogenetics Unit, 1st Department of Neurology, Eginition Hospital Medical School National and Kapodistrian 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