{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:28:00Z","timestamp":1791098880079,"version":"4.1.0"},"reference-count":32,"publisher":"Elsevier BV","issue":"8-9","license":[{"start":{"date-parts":[[2013,8,1]],"date-time":"2013-08-01T00:00:00Z","timestamp":1375315200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Revue Neurologique"],"published-print":{"date-parts":[[2013,8]]},"DOI":"10.1016\/j.neurol.2013.07.004","type":"journal-article","created":{"date-parts":[[2013,9,5]],"date-time":"2013-09-05T15:30:30Z","timestamp":1378395030000},"page":"603-612","source":"Crossref","is-referenced-by-count":12,"title":["Maladie de Charcot-Marie-Tooth associ\u00e9e au g\u00e8ne de la p\u00e9riaxine (CMT4F)\u00a0: description clinique, \u00e9lectrophysiologique et g\u00e9n\u00e9tique de 24\u00a0patients"],"prefix":"10.1016","volume":"169","author":[{"given":"M.","family":"Renouil","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.","family":"Stojkovic","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.L.","family":"Jacquemont","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Lauret","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Bou\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Fourmaintraux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Randrianaivo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Tallot","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Mignard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Roelens","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"D.","family":"Tabailloux","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Bernard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Cartault","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Chane-Thien","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.","family":"Dubourg","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"X.","family":"Ferrer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"G.","family":"Sole","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Fournier","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Latour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"Lacour","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Mignard","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"1","key":"10.1016\/j.neurol.2013.07.004_bib0005","doi-asserted-by":"crossref","first-page":"33","DOI":"10.1055\/s-2008-1077085","article-title":"Two novel mutations in the GDAP1\u00a0and PRX genes in early onset Charcot-Marie-Tooth syndrome","volume":"39","author":"Auer-Grumbach","year":"2008","journal-title":"Neuropediatrics"},{"issue":"6","key":"10.1016\/j.neurol.2013.07.004_bib0010","doi-asserted-by":"crossref","first-page":"548","DOI":"10.1111\/j.1468-1331.2008.02104.x","article-title":"A 71-nucleotide deletion in the periaxin gene in a Romani patient with early-onset slowly progressive demyelinating CMT","volume":"15","author":"Barankova","year":"2008","journal-title":"Eur J Neurol"},{"key":"10.1016\/j.neurol.2013.07.004_bib0215","series-title":"Source GeneReviews\u2122 [Internet]","article-title":"Charcot-Marie-Tooth. Neuropathy Type 4","author":"Bird","year":"1993"},{"issue":"2","key":"10.1016\/j.neurol.2013.07.004_bib0020","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1086\/318208","article-title":"Periaxin mutations cause recessive Dejerine-Sottasneuropathy","volume":"68","author":"Boerkoel","year":"2001","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.neurol.2013.07.004_bib0030","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1038\/75542","article-title":"Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2","volume":"25","author":"Bolino","year":"2000","journal-title":"Nat Genet"},{"issue":"7149","key":"10.1016\/j.neurol.2013.07.004_bib0035","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1038\/nature05876","article-title":"Mutation of FIG4\u00a0causes neurodegeneration in the pale tremor mouse and patients with CMT4J","volume":"448","author":"Chow","year":"2007","journal-title":"Nature"},{"issue":"7005","key":"10.1016\/j.neurol.2013.07.004_bib0040","doi-asserted-by":"crossref","first-page":"191","DOI":"10.1038\/nature02841","article-title":"Restricted growth of Schwann cells lacking Cajal bands slows conduction in myelinated nerves","volume":"431","author":"Court","year":"2004","journal-title":"Nature"},{"issue":"12","key":"10.1016\/j.neurol.2013.07.004_bib0045","doi-asserted-by":"crossref","first-page":"3908","DOI":"10.1523\/JNEUROSCI.5672-08.2009","article-title":"A laminin-2, dystroglycan, utrophin axis is required for compartmentalization and elongation of myelin segments","volume":"29","author":"Court","year":"2009","journal-title":"J Neurosci"},{"issue":"1","key":"10.1016\/j.neurol.2013.07.004_bib0050","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1038\/ng798","article-title":"The gene encoding ganglioside-induced differentiation-associated protein 1\u00a0is mutated in axonal Charcot-Marie-Tooth tyoe 4A disease","volume":"30","author":"Cuesta","year":"2002","journal-title":"Nat Genet"},{"issue":"1","key":"10.1016\/j.neurol.2013.07.004_bib0055","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1086\/302980","article-title":"Mapping of a new locus for autosomal recessive demyelinating Charcot-Marie-Tooth disease to 19q13.1-13.3\u00a0in a large consanguineous Lebanese family: exclusion of MAG as a candidate gene","volume":"67","author":"Delague","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"1","key":"10.1016\/j.neurol.2013.07.004_bib0060","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1086\/518428","article-title":"Mutations in FGD4\u00a0encoding the Rho GDP\/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H","volume":"81","author":"Delague","year":"2007","journal-title":"Am J Hum Genet"},{"issue":"4","key":"10.1016\/j.neurol.2013.07.004_bib0070","doi-asserted-by":"crossref","first-page":"415","DOI":"10.1093\/hmg\/10.4.415","article-title":"A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease","volume":"10","author":"Guilbot","year":"2001","journal-title":"Hum Mol Genet"},{"issue":"12","key":"10.1016\/j.neurol.2013.07.004_bib0075","doi-asserted-by":"crossref","first-page":"1606","DOI":"10.1038\/ejhg.2009.99","article-title":"A mutation in an alternative untranslated exon of hexokinase 1\u00a0associated with hereditary motor and sensory neuropathy \u2013 Russe (HMSNon document\u00e9)","volume":"17","author":"Hantke","year":"2009","journal-title":"Eur J Hum Genet"},{"issue":"5","key":"10.1016\/j.neurol.2013.07.004_bib0085","doi-asserted-by":"crossref","first-page":"745","DOI":"10.1212\/01.wnl.0000201269.46071.35","article-title":"Charcot-Marie-Tooth type 4F disease caused by S399fsx410\u00a0mutation in the PRX gene","volume":"66","author":"Kabzinska","year":"2006","journal-title":"Neurology"},{"issue":"1","key":"10.1016\/j.neurol.2013.07.004_bib0090","doi-asserted-by":"crossref","first-page":"47","DOI":"10.1086\/302978","article-title":"N-myc downstream-regulated gene 1\u00a0is mutated in hereditary motor and sensory neuropathy-Lom","volume":"67","author":"Kalaydjieva","year":"2000","journal-title":"Am J Hum Genet"},{"issue":"7","key":"10.1016\/j.neurol.2013.07.004_bib0095","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1007\/s10038-004-0162-3","article-title":"Periaxin mutation causes early-onset but slow-progressive Charcot-Marie-Tooth disease","volume":"49","author":"Kijima","year":"2004","journal-title":"J Hum Genet"},{"issue":"1","key":"10.1016\/j.neurol.2013.07.004_bib0100","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1016\/j.ydbio.2011.06.036","article-title":"Periaxin is required for hexagonal geometry and membrane organization of mature lens fibers","volume":"357","author":"Maddala","year":"2011","journal-title":"Dev Biol"},{"issue":"20","key":"10.1016\/j.neurol.2013.07.004_bib0105","doi-asserted-by":"crossref","first-page":"1830","DOI":"10.1212\/WNL.0b013e3181fd6314","article-title":"Four novel cases of periaxin-related neuropathy and review of the literature","volume":"75","author":"Marchesi","year":"2010","journal-title":"Neurology"},{"issue":"2","key":"10.1016\/j.neurol.2013.07.004_bib0220","doi-asserted-by":"crossref","first-page":"165","DOI":"10.1212\/WNL.0b013e31829a3421","article-title":"SET binding factor 1 (SBF1) mutation causes Charcot-Marie-Tooth disease type 4B3","volume":"81","author":"Nakhro","year":"2013","journal-title":"Neurology"},{"issue":"8","key":"10.1016\/j.neurol.2013.07.004_bib0110","doi-asserted-by":"crossref","first-page":"543","DOI":"10.1016\/j.nmd.2011.04.013","article-title":"Novel mutations in the PRX and the MTMR2\u00a0genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes","volume":"21","author":"Nouioua","year":"2011","journal-title":"Neuromuscul Disord"},{"issue":"7","key":"10.1016\/j.neurol.2013.07.004_bib0120","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1007\/s10038-006-0408-3","article-title":"Periaxin mutation in Japanese patients with Charcot-Marie-Tooth disease","volume":"51","author":"Otagiri","year":"2006","journal-title":"J Hum Genet"},{"issue":"11","key":"10.1016\/j.neurol.2013.07.004_bib0130","doi-asserted-by":"crossref","first-page":"2540","DOI":"10.1093\/brain\/awh275","article-title":"Clinicopathological and genetic study of early-onset demyelinating neuropathy","volume":"127","author":"Parman","year":"2004","journal-title":"Brain"},{"issue":"45","key":"10.1016\/j.neurol.2013.07.004_bib0135","doi-asserted-by":"crossref","first-page":"16369","DOI":"10.1523\/JNEUROSCI.4016-11.2011","article-title":"Quantitative and integrative proteome analysis of peripheral nerve myelin identifies novel myelin proteins and candidate neuropathy loci","volume":"31","author":"Patzig","year":"2011","journal-title":"J Neurosci"},{"issue":"5","key":"10.1016\/j.neurol.2013.07.004_bib0140","doi-asserted-by":"crossref","first-page":"1106","DOI":"10.1086\/379525","article-title":"Mutations in a gene encoding a novel SH3\/TPR domain protein cause autosomal recessive Charcot-Marie-Tooth type 4C neuropathy","volume":"73","author":"Senderek","year":"2003","journal-title":"Am J Hum Genet"},{"issue":"3","key":"10.1016\/j.neurol.2013.07.004_bib0145","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1093\/brain\/awg068","article-title":"Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy","volume":"126","author":"Senderek","year":"2003","journal-title":"Brain"},{"issue":"3","key":"10.1016\/j.neurol.2013.07.004_bib0150","doi-asserted-by":"crossref","first-page":"349","DOI":"10.1093\/hmg\/ddg030","article-title":"Mutation of the SBF2\u00a0gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2\/11p15","volume":"12","author":"Senderek","year":"2003","journal-title":"Hum Mol Genet"},{"issue":"11","key":"10.1016\/j.neurol.2013.07.004_bib0155","doi-asserted-by":"crossref","first-page":"3051","DOI":"10.1093\/brain\/awn228","article-title":"Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy","volume":"131","author":"Sevilla","year":"2008","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.neurol.2013.07.004_bib0165","doi-asserted-by":"crossref","first-page":"709","DOI":"10.1002\/ana.10213","article-title":"Periaxin mutations cause a broad spectrum of demyelinating neuropathies","volume":"51","author":"Takashima","year":"2002","journal-title":"Ann Neurol"},{"issue":"4","key":"10.1016\/j.neurol.2013.07.004_bib0175","doi-asserted-by":"crossref","first-page":"359","DOI":"10.1007\/s10048-012-0338-5","article-title":"Late-onset Charcot-Marie-Tooth disease 4F caused by periaxin gene mutation","volume":"13","author":"Tokunaga","year":"2012","journal-title":"Neurogenetics"},{"issue":"7","key":"10.1016\/j.neurol.2013.07.004_bib0190","doi-asserted-by":"crossref","first-page":"1245","DOI":"10.1093\/hmg\/8.7.1245","article-title":"Functional consequences of mutations in the early growth response 2\u00a0gene (EGR2) correlate with severity of human myelinopathies","volume":"8","author":"Warner","year":"1999","journal-title":"Hum Mol Genet"},{"issue":"1","key":"10.1016\/j.neurol.2013.07.004_bib0200","doi-asserted-by":"crossref","first-page":"112","DOI":"10.1111\/j.1529-8027.2012.00382.x","article-title":"Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C","volume":"17","author":"Yger","year":"2012","journal-title":"J. Peripher Nerv Syst"},{"issue":"6","key":"10.1016\/j.neurol.2013.07.004_bib0205","doi-asserted-by":"crossref","first-page":"540","DOI":"10.1212\/WNL.0b013e318228fc70","article-title":"Dominant GDAP1\u00a0mutations cause predominantly mild CMT phenotypes","volume":"77","author":"Zimon","year":"2011","journal-title":"Neurology"}],"container-title":["Revue Neurologique"],"original-title":[],"language":"fr","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378713008503?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0035378713008503?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2018,10,13]],"date-time":"2018-10-13T06:57:04Z","timestamp":1539413824000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0035378713008503"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013,8]]},"references-count":32,"journal-issue":{"issue":"8-9","published-print":{"date-parts":[[2013,8]]}},"alternative-id":["S0035378713008503"],"URL":"https:\/\/doi.org\/10.1016\/j.neurol.2013.07.004","relation":{},"ISSN":["0035-3787"],"issn-type":[{"value":"0035-3787","type":"print"}],"subject":[],"published":{"date-parts":[[2013,8]]}}}