{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,22]],"date-time":"2026-06-22T04:48:43Z","timestamp":1782103723586,"version":"3.54.5"},"reference-count":7,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T00:00:00Z","timestamp":1768953600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2026,3]]},"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:sec>\n                    <jats:title>Background and Aims<\/jats:title>\n                    <jats:p>\n                      Biallelic pathogenic variants in\n                      <jats:italic>PLEKHG5<\/jats:italic>\n                      are associated with two distinct recessive phenotypes, including distal hereditary motor neuropathy AR type 4 and intermediate Charcot\u2010Marie\u2010Tooth disease type C (CMT). No South American cases have been previously reported.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Methods<\/jats:title>\n                    <jats:p>We evaluated a male patient with suspected hereditary neuropathy using clinical, electrophysiological, and genetic studies.<\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Results<\/jats:title>\n                    <jats:p>\n                      Symptoms began at 12\u2009years with progressive distal weakness. At 40\u2009years, he had foot drop, pes cavus, distal atrophy, areflexia, and sensory loss to the knees. Disability scales indicated moderate impairment. Electroneuromyography revealed abolished responses in the lower limbs and motor conduction velocities in the intermediate range (35\u201340\u2009m\/s). Genetic analysis identified the homozygous variant c.59G&gt;A (p.Arg20Gln) in\n                      <jats:italic>PLEKHG5<\/jats:italic>\n                      , currently classified as VUS.\n                    <\/jats:p>\n                  <\/jats:sec>\n                  <jats:sec>\n                    <jats:title>Interpretation<\/jats:title>\n                    <jats:p>\n                      This reports presents a case from South American linking a homozygous\n                      <jats:italic>PLEKHG5<\/jats:italic>\n                      variant to recessive intermediate CMT, expanding the geographic and phenotypic spectrum of\n                      <jats:italic>PLEKHG5<\/jats:italic>\n                      \u2010related neuropathies.\n                    <\/jats:p>\n                  <\/jats:sec>","DOI":"10.1111\/jns.70099","type":"journal-article","created":{"date-parts":[[2026,1,21]],"date-time":"2026-01-21T12:14:26Z","timestamp":1768997666000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Novel Biallelic\n                    <scp>PLEKHG5<\/scp>\n                    Variant Associated With Intermediate Charcot\u2010Marie\u2010Tooth Disease: Case Report From South America"],"prefix":"10.1111","volume":"31","author":[{"ORCID":"https:\/\/orcid.org\/0009-0008-9798-5024","authenticated-orcid":false,"given":"Rafael Oliveira","family":"Vidon","sequence":"first","affiliation":[{"name":"Neurology Department Hospital Universit\u00e1rio Gaffr\u00e9e e Guinle, Universidade Federal Do Estado Do Rio de Janeiro (UNIRIO)  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pedro Jos\u00e9","family":"Tomaselli","sequence":"additional","affiliation":[{"name":"Department of Neurosciences and Behaviour Sciences School of Medicine of Ribeir\u00e3o Preto, University of S\u00e3o Paulo  Ribeir\u00e3o Preto Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Caroline","family":"Bittar\u2010Braune","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital Universit\u00e1rio Gaffr\u00e9e e Guinle, Universidade Federal Do Estado Do Rio de Janeiro (UNIRIO)  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Izabela Jardim","family":"Pitta","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital Universit\u00e1rio Ant\u00f4nio Pedro, Universidade Federal Fluminense (UFF)  Niter\u00f3i Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Glenda Corr\u00eaa Borges","family":"de Lacerda","sequence":"additional","affiliation":[{"name":"Neurology Department Hospital Universit\u00e1rio Gaffr\u00e9e e Guinle, Universidade Federal Do Estado Do Rio de Janeiro (UNIRIO)  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1784-6857","authenticated-orcid":false,"given":"M\u00e1rcia","family":"Jardim","sequence":"additional","affiliation":[{"name":"Hospital Universit\u00e1rio Pedro Ernesto, Universidade do Estado do Rio de Janeiro (UERJ), and Oswaldo Cruz Foundation (Fiocruz)  Rio de Janeiro Brazil"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,1,21]]},"reference":[{"key":"e_1_2_8_2_1","doi-asserted-by":"publisher","DOI":"10.1086\/518900"},{"key":"e_1_2_8_3_1","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt274"},{"key":"e_1_2_8_4_1","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14649"},{"key":"e_1_2_8_5_1","first-page":"347","article-title":"Homozygous N\u2010Terminal Missense Variant in PLEKHG5 Associated With Intermediate CMT: A Case Report","volume":"26","author":"Beijer 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