{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,7,30]],"date-time":"2025-07-30T16:09:25Z","timestamp":1753891765025,"version":"3.41.2"},"reference-count":24,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T00:00:00Z","timestamp":1709078400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Neurol."],"abstract":"<jats:p>This report presents a case of Charcot\u2013Marie\u2013Tooth dominant intermediate D (CMTDID), a rare subtype of Charcot\u2013Marie\u2013Tooth disease, in a 52\u2009years-old male patient. The patient exhibited mobility impairment, foot abnormalities (pes cavus), and calf muscle atrophy. Whole exome sequencing and Sanger sequencing suggested that a novel variant (NM_000530.8, c.145C&amp;gt;A\/p.His49Asn) of <jats:italic>MPZ<\/jats:italic> may be the genetic lesion in the patient. The bioinformatic program predicted that the new variant (p.His49Asn), located at an evolutionarily conserved site of <jats:italic>MPZ<\/jats:italic>, was neutral. Our study expands the variant spectrum of <jats:italic>MPZ<\/jats:italic> and the number of identified CMTDID patients, contributing to a better understanding of the relationship between <jats:italic>MPZ<\/jats:italic> and CMTDID.<\/jats:p>","DOI":"10.3389\/fneur.2024.1319962","type":"journal-article","created":{"date-parts":[[2024,2,28]],"date-time":"2024-02-28T16:06:56Z","timestamp":1709136416000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":0,"title":["Case report: A novel variant (H49N) in Myelin Protein Zero gene is responsible for a patient with Charcot\u2013Marie\u2013Tooth disease"],"prefix":"10.3389","volume":"15","author":[{"given":"Gao-Hui","family":"Cao","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mei-Fang","family":"Zhao","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi","family":"Dong","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang-Liang","family":"Fan","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yi-Hui","family":"Liu","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Yao","family":"Deng","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Lu-Lu","family":"Tang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1965","published-online":{"date-parts":[[2024,2,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","first-page":"1655","DOI":"10.1007\/s00415-017-8474-3","article-title":"Intermediate 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