{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,20]],"date-time":"2026-09-20T22:15:32Z","timestamp":1789942532233,"version":"4.0.1"},"reference-count":28,"publisher":"Public Library of Science (PLoS)","issue":"2","license":[{"start":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T00:00:00Z","timestamp":1454284800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["www.plosgenetics.org"],"crossmark-restriction":false},"short-container-title":["PLoS Genet"],"DOI":"10.1371\/journal.pgen.1005829","type":"journal-article","created":{"date-parts":[[2016,2,1]],"date-time":"2016-02-01T13:54:50Z","timestamp":1454334890000},"page":"e1005829","update-policy":"https:\/\/doi.org\/10.1371\/journal.pgen.corrections_policy","source":"Crossref","is-referenced-by-count":57,"title":["A Mutation in PMP2 Causes Dominant Demyelinating Charcot-Marie-Tooth Neuropathy"],"prefix":"10.1371","volume":"12","author":[{"given":"Young Bin","family":"Hong","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jaesoon","family":"Joo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Young Se","family":"Hyun","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Geon","family":"Kwak","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu-Ri","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ha Kyung","family":"Yeo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dong Hwan","family":"Jwa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Eun Ja","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Won Min","family":"Mo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Soo Hyun","family":"Nam","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sung Min","family":"Kim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jeong Hyun","family":"Yoo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heasoo","family":"Koo","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hwan Tae","family":"Park","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ki Wha","family":"Chung","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Byung-Ok","family":"Choi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"340","published-online":{"date-parts":[[2016,2,1]]},"reference":[{"issue":"5","key":"ref1","doi-asserted-by":"crossref","first-page":"579","DOI":"10.1097\/00019052-200410000-00008","article-title":"Charcot-Marie-Tooth disease: an update","volume":"17","author":"ME Shy","year":"2004","journal-title":"Curr Opin Neurol"},{"issue":"Pt 5","key":"ref2","doi-asserted-by":"crossref","first-page":"1511","DOI":"10.1093\/brain\/113.5.1511","article-title":"X-linked dominant hereditary motor and sensory neuropathy","volume":"113","author":"AF Hahn","year":"1990","journal-title":"Brain"},{"issue":"5142","key":"ref3","doi-asserted-by":"crossref","first-page":"2039","DOI":"10.1126\/science.8266101","article-title":"Connexin mutations in X-linked Charcot-Marie-Tooth disease","volume":"262","author":"J Bergoffen","year":"1993","journal-title":"Science"},{"issue":"1\u20132","key":"ref4","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1385\/NMM:8:1-2:43","article-title":"Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease","volume":"8","author":"H Houlden","year":"2006","journal-title":"Neuromolecular Med"},{"key":"ref5","article-title":"Basic neurochemistry","author":"P Morell","year":"1999"},{"issue":"4","key":"ref6","doi-asserted-by":"crossref","first-page":"241","DOI":"10.1159\/000132151","article-title":"Shiverer gene maps near the distal end of chromosome 18 in the house mouse","volume":"39","author":"RL Sidman","year":"1985","journal-title":"Cytogenet. Cell Genet"},{"issue":"10","key":"ref7","doi-asserted-by":"crossref","first-page":"1625","DOI":"10.1093\/hmg\/2.10.1625","article-title":"Linkage of a locus (CMT4A) for autosomal recessive Charcot-Marie-Tooth disease to chromosome 8q","volume":"2","author":"K Ben Othmane","year":"1993","journal-title":"Hum Mol Genet"},{"issue":"2","key":"ref8","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1006\/geno.1995.1143","article-title":"Physical and genetic mapping of the CMT4A locus and exclusion of PMP-2 as the defect in CMT4A","volume":"28","author":"K Ben Othmane","year":"1995","journal-title":"Genomics"},{"issue":"9","key":"ref9","doi-asserted-by":"crossref","first-page":"1502","DOI":"10.1002\/glia.22696","article-title":"A role of peripheral myelin protein 2 in lipid homeostasis of myelinating Schwann cells","volume":"62","author":"J Zenker","year":"2014","journal-title":"Glia"},{"issue":"7","key":"ref10","doi-asserted-by":"crossref","first-page":"1169","DOI":"10.1016\/j.celrep.2015.07.023","article-title":"Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy","volume":"12","author":"C Gonzaga-Jauregui","year":"2015","journal-title":"Cell Rep"},{"issue":"1","key":"ref11","doi-asserted-by":"crossref","first-page":"204","DOI":"10.1016\/S0006-291X(05)81402-0","article-title":"Isolation and sequence determination of cDNA encoding P2 protein of human peripheral myelin","volume":"181","author":"K Hayasaka","year":"1991","journal-title":"Biochem Biophys Res Commun"},{"issue":"3","key":"ref12","doi-asserted-by":"crossref","first-page":"271","DOI":"10.1097\/MOL.0b013e3281338558","article-title":"Fatty acid transport proteins","volume":"18","author":"RE Gimeno","year":"2007","journal-title":"Curr Opin Lipidol"},{"issue":"1","key":"ref13","doi-asserted-by":"crossref","first-page":"39","DOI":"10.1007\/BF03194597","article-title":"The multigene family of fatty acid-binding proteins (FABPs): function, structure and polymorphism","volume":"47","author":"A Chmurzynska","year":"2006","journal-title":"J Appl Genet"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"585","DOI":"10.1155\/2010\/317525","article-title":"Dynamics of a reconstituted myelin sheath","volume":"24","author":"W Knoll","year":"2010","journal-title":"Spectroscopy"},{"issue":"3","key":"ref15","doi-asserted-by":"crossref","first-page":"170","DOI":"10.1186\/1479-7364-5-3-170","article-title":"The human fatty acid-binding protein family: evolutionary divergences and functions","volume":"5","author":"RL Smathers","year":"2011","journal-title":"Hum Genomics"},{"issue":"4","key":"ref16","doi-asserted-by":"crossref","first-page":"e10300","DOI":"10.1371\/journal.pone.0010300","article-title":"Structural and functional characterization of human peripheral nervous system myelin protein P2","volume":"5","author":"V Majava","year":"2010","journal-title":"PLoS One"},{"issue":"6","key":"ref17","doi-asserted-by":"crossref","first-page":"909","DOI":"10.1002\/jnr.22612","article-title":"High-resolution structural model of porcine P2 myelin membrane protein with associated fatty acid ligand: fact or artifact?","volume":"89","author":"J Sedzik","year":"2011","journal-title":"J Neurosci Res"},{"issue":"8","key":"ref18","doi-asserted-by":"crossref","first-page":"769","DOI":"10.1136\/jnnp.40.8.769","article-title":"Conduction velocity and spike configuration in myelinated fibres: computed dependence on internode distance","volume":"40","author":"MH Brill","year":"1977","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"Pt 12","key":"ref19","doi-asserted-by":"crossref","first-page":"3263","DOI":"10.1093\/brain\/awp274","article-title":"Shortened internodal length of dermal myelinated nerve fibres in Charcot-Marie-Tooth disease type 1","volume":"132","author":"MA Saporta","year":"2009","journal-title":"A. Brain"},{"issue":"7005","key":"ref20","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":"FA Court","year":"2004","journal-title":"Nature"},{"issue":"3","key":"ref21","doi-asserted-by":"crossref","first-page":"310","DOI":"10.1002\/jnr.20357","article-title":"Enhancement of Schwann cell myelin formation by K252a in the Trembler-J mouse dorsal root ganglion explant culture","volume":"79","author":"N Liu","year":"2005","journal-title":"J Neurosci Res"},{"issue":"8","key":"ref22","doi-asserted-by":"crossref","first-page":"665","DOI":"10.2340\/16501977-0235","article-title":"Reliability and validity of the Medical Research Council (MRC) scale and a modified scale for testing muscle strength in patients with radial palsy","volume":"40","author":"T Paternostro-Sluga","year":"2008","journal-title":"J Rehabil Med"},{"issue":"4","key":"ref23","doi-asserted-by":"crossref","first-page":"1074","DOI":"10.1212\/WNL.50.4.1074","article-title":"X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study","volume":"50","author":"N Birouk","year":"1998","journal-title":"Neurology"},{"issue":"7","key":"ref24","doi-asserted-by":"crossref","first-page":"1209","DOI":"10.1212\/01.WNL.0000156517.00615.A3","article-title":"Reliability and validity of the CMT neuropathy score as a measure of disability","volume":"64","author":"ME Shy","year":"2005","journal-title":"Neurology"},{"issue":"10","key":"ref25","doi-asserted-by":"crossref","first-page":"2731","DOI":"10.1093\/molbev\/msr121","article-title":"MEGA5: molecular evolutionary genetics analysis using maximum likelihood, evolutionary distance, and maximum parsimony methods","volume":"28","author":"K Tamura","year":"2011","journal-title":"Mol Biol Evol"},{"key":"ref26","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1186\/s12929-015-0154-y","article-title":"Overexpression of mutant HSP27 causes axonal neuropathy in mice","volume":"22","author":"J Lee","year":"2015","journal-title":"J Biomed Sci"},{"issue":"6","key":"ref27","doi-asserted-by":"crossref","first-page":"2009","DOI":"10.1523\/JNEUROSCI.4537-10.2011","article-title":"Actin polymerization is essential for myelin sheath fragmentation during Wallerian degeneration","volume":"31","author":"J Jung","year":"2011","journal-title":"J Neurosci"},{"issue":"22","key":"ref28","doi-asserted-by":"crossref","first-page":"7657","DOI":"10.1523\/JNEUROSCI.4947-13.2014","article-title":"Grb2-associated binder-1 is required for neuregulin-1-induced peripheral nerve myelination","volume":"34","author":"YK Shin","year":"2014","journal-title":"J Neurosci"}],"container-title":["PLOS Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/dx.plos.org\/10.1371\/journal.pgen.1005829","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2018,10,22]],"date-time":"2018-10-22T22:24:51Z","timestamp":1540247091000},"score":1,"resource":{"primary":{"URL":"https:\/\/dx.plos.org\/10.1371\/journal.pgen.1005829"}},"subtitle":[],"editor":[{"given":"James R.","family":"Lupski","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2016,2,1]]},"references-count":28,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2016,2,1]]}},"URL":"https:\/\/doi.org\/10.1371\/journal.pgen.1005829","relation":{},"ISSN":["1553-7404"],"issn-type":[{"value":"1553-7404","type":"electronic"}],"subject":[],"published":{"date-parts":[[2016,2,1]]}}}