{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:27:34Z","timestamp":1791098854923,"version":"4.1.0"},"reference-count":14,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2013,9,12]],"date-time":"2013-09-12T00:00:00Z","timestamp":1378944000000},"content-version":"vor","delay-in-days":11,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2013,9]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>Charcot\u2010Marie\u2010Tooth (<jats:styled-content style=\"fixed-case\">CMT<\/jats:styled-content>) disease is a heterogeneous condition with a large number of clinical, electrophysiological and pathological phenotypes. More than 40 genes are involved. We report a child of gypsy origin with an autosomal recessive demyelinating phenotype. Clinical data, familial history, and electrophysiological studies were in favor of a <jats:styled-content style=\"fixed-case\">CMT4<\/jats:styled-content> sub\u2010type. The characteristic N\u2010Myc downstream\u2010regulated gene\u00a01 (<jats:italic><jats:styled-content style=\"fixed-case\">NDRG1<\/jats:styled-content><\/jats:italic>) mutation responsible for this <jats:styled-content style=\"fixed-case\">CMT4D<\/jats:styled-content> phenotype was confirmed: p.R<jats:styled-content style=\"fixed-case\">148X<\/jats:styled-content>. The exact molecular function of the <jats:styled-content style=\"fixed-case\">NDRG1<\/jats:styled-content> protein has yet to be elucidated.<\/jats:p>","DOI":"10.1111\/jns5.12039","type":"journal-article","created":{"date-parts":[[2013,8,5]],"date-time":"2013-08-05T12:09:32Z","timestamp":1375704572000},"page":"261-265","source":"Crossref","is-referenced-by-count":13,"title":["<scp>CMT4D<\/scp> (<scp>NDRG1<\/scp> mutation): genotype\u2013phenotype correlations"],"prefix":"10.1111","volume":"18","author":[{"given":"Emilie","family":"Ricard","sequence":"first","affiliation":[{"name":"Service et Laboratoire de Neurologie, Centre de R\u00e9f\u00e9rence Neuropathies P\u00e9riph\u00e9riques Rares CHU Limoges Limoges France"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"St\u00e9phane","family":"Mathis","sequence":"additional","affiliation":[{"name":"Service de Neurologie, CHU Poitiers Universit\u00e9 de Poitiers Poitiers 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