{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,10]],"date-time":"2026-10-10T07:55:49Z","timestamp":1791618949813,"version":"4.3.4"},"reference-count":57,"publisher":"Wiley","issue":"9","license":[{"start":{"date-parts":[[2022,8,8]],"date-time":"2022-08-08T00:00:00Z","timestamp":1659916800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Brain and Behavior"],"published-print":{"date-parts":[[2022,9]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background<\/jats:title>\n                    <jats:p>Charcot\u2013Marie\u2010Tooth (CMT) disease is one of the most common hereditary neuropathies. Identifying causative mutations in CMT is essential as it provides important information for genetic diagnosis and counseling. However, genetic information of Vietnamese patients diagnosed with CMT is currently not available.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>\n                      In this study, we described the clinical profile and determined the mutation spectrum of CMT in a cohort of Vietnamese patients with CMT by using a combination of multiplex ligation\u2010dependent probe amplification and next\u2010generation sequencing targeting 11 genes\n                      <jats:italic>PMP22, MPZ, EGR2, NEFL, MFN2, GDAP1, GARS, MTMR2, GJB1, RAB7A, LITAF<\/jats:italic>\n                      .\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      In 31 CMT cases, the mutation detection rate was 42% and the most common genetic aberration was PMP22 duplication. The pedigree analysis showed two de novo mutations c.64C\u00a0&gt;\u00a0A (p.P22T) and c.281delG (p.G94Afs*17) in the\n                      <jats:italic>NEFL<\/jats:italic>\n                      and\n                      <jats:italic>PMP22<\/jats:italic>\n                      genes, respectively.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Conclusion<\/jats:title>\n                    <jats:p>The results of this study once again emphasize the important role of molecular diagnosis and provide preliminary genetic data on Vietnamese patients with CMT.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1002\/brb3.2744","type":"journal-article","created":{"date-parts":[[2022,8,8]],"date-time":"2022-08-08T10:39:21Z","timestamp":1659955161000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":5,"title":["Genotype\u2013phenotype characteristics of Vietnamese patients diagnosed with Charcot\u2013Marie\u2013Tooth disease"],"prefix":"10.1002","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5773-8047","authenticated-orcid":false,"given":"Trung\u2010Hieu","family":"Nguyen\u2010Le","sequence":"first","affiliation":[{"name":"Faculty of Medicine University of Medicine and Pharmacy at Ho Chi Minh City  Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Minh Duc","family":"Do","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine University of Medicine and Pharmacy at Ho Chi Minh City  Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Linh Hoang Gia","family":"Le","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine University of Medicine and Pharmacy at Ho Chi Minh City  Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Quynh Nhu Nguyen","family":"Nhat","sequence":"additional","affiliation":[{"name":"Center for Molecular Biomedicine University of Medicine and Pharmacy at Ho Chi Minh City  Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nghia Trong Tien","family":"Hoang","sequence":"additional","affiliation":[{"name":"175 Military Hospital  Ho Chi Minh City Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tuan","family":"Van Le","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Medicine and Pharmacy at Ho Chi Minh City  Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6045-099X","authenticated-orcid":false,"given":"Thao Phuong","family":"Mai","sequence":"additional","affiliation":[{"name":"Faculty of Medicine University of Medicine and Pharmacy at Ho Chi Minh City  Vietnam"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2022,8,8]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.261713499"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1038\/nmeth0410-248"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.1159\/000443706"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1007\/s12017-014-8307-9"},{"key":"e_1_2_9_6_1","volume-title":"GeneReviews\u00ae [Internet]","author":"Bird T. 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