{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,30]],"date-time":"2026-10-30T00:05:48Z","timestamp":1793318748495,"version":"4.5.0"},"reference-count":41,"publisher":"Elsevier BV","issue":"2","license":[{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2021,2,1]],"date-time":"2021-02-01T00:00:00Z","timestamp":1612137600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","nmd-journal.com","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Neuromuscular Disorders"],"published-print":{"date-parts":[[2021,2]]},"DOI":"10.1016\/j.nmd.2020.11.013","type":"journal-article","created":{"date-parts":[[2020,11,30]],"date-time":"2020-11-30T11:59:23Z","timestamp":1606737563000},"page":"113-122","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":19,"title":["Genetic neuropathies presenting with CIDP-like features in childhood"],"prefix":"10.1016","volume":"31","author":[{"given":"Miguel A.","family":"Fernandez-Garcia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Georg M.","family":"Stettner","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria","family":"Kinali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Antonia","family":"Clarke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Penny","family":"Fallon","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ursula","family":"Knirsch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elizabeth","family":"Wraige","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Heinz","family":"Jungbluth","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"issue":"5","key":"10.1016\/j.nmd.2020.11.013_bib0001","doi-asserted-by":"crossref","first-page":"620","DOI":"10.1055\/s-0039-1693006","article-title":"Inherited neuropathies","volume":"39","author":"Carroll","year":"2019","journal-title":"Semin Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2020.11.013_bib0002","doi-asserted-by":"crossref","first-page":"72","DOI":"10.1007\/s10072-004-0233-4","article-title":"Differential diagnosis of Charcot-Marie-Tooth disease and related neuropathies","volume":"25","author":"Pareyson","year":"2004","journal-title":"Neurol Sci"},{"issue":"12","key":"10.1016\/j.nmd.2020.11.013_bib0003","doi-asserted-by":"crossref","first-page":"817","DOI":"10.1016\/j.nmd.2016.09.016","article-title":"Challenges in pediatric chronic inflammatory demyelinating polyneuropathy","volume":"26","author":"Haliloglu","year":"2016","journal-title":"Neuromuscul Disord"},{"issue":"4","key":"10.1016\/j.nmd.2020.11.013_bib0004","doi-asserted-by":"crossref","first-page":"433","DOI":"10.1007\/BF00227671","article-title":"Occurrence of active demyelinating lesions in children with hereditary motor and sensory neuropathy (HMSN) type I","volume":"84","author":"Vital","year":"1992","journal-title":"Acta Neuropathol"},{"issue":"4","key":"10.1016\/j.nmd.2020.11.013_bib0005","doi-asserted-by":"crossref","first-page":"258","DOI":"10.1016\/S0387-7604(01)00205-4","article-title":"Inflammatory pathological changes in a 2-year-old boy with Charcot-Marie-Tooth disease","volume":"23","author":"Nakai","year":"2001","journal-title":"Brain Dev"},{"issue":"4","key":"10.1016\/j.nmd.2020.11.013_bib0006","doi-asserted-by":"crossref","first-page":"315","DOI":"10.1016\/j.ejpn.2011.12.003","article-title":"Childhood chronic inflammatory demyelinating polyneuroradiculopathy\u2013three cases and a review of the literature","volume":"16","author":"Riekhoff","year":"2012","journal-title":"Eur J Paediatr Neurol"},{"issue":"4","key":"10.1016\/j.nmd.2020.11.013_bib0007","doi-asserted-by":"crossref","first-page":"264","DOI":"10.1016\/j.nmd.2009.01.006","article-title":"The phenotype of Charcot-Marie-Tooth disease type 4C due to SH3TC2 mutations and possible predisposition to an inflammatory neuropathy","volume":"19","author":"Houlden","year":"2009","journal-title":"Neuromuscul Disord"},{"issue":"5","key":"10.1016\/j.nmd.2020.11.013_bib0008","doi-asserted-by":"crossref","first-page":"749","DOI":"10.1002\/mus.25981","article-title":"Charcot-Marie-Tooth Disease type 4C: novel mutations, clinical presentations, and diagnostic challenges","volume":"57","author":"Jerath","year":"2018","journal-title":"Muscle Nerve"},{"issue":"Pt 11","key":"10.1016\/j.nmd.2020.11.013_bib0009","doi-asserted-by":"crossref","first-page":"3180","DOI":"10.1093\/brain\/awv241","article-title":"Genotype-phenotype characteristics and baseline natural history of heritable neuropathies caused by mutations in the MPZ gene","volume":"138","author":"Sanmaneechai","year":"2015","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.nmd.2020.11.013_bib0010","doi-asserted-by":"crossref","first-page":"799","DOI":"10.1136\/jnnp.69.6.799","article-title":"Steroid responsive polyneuropathy in a family with a novel myelin protein zero mutation","volume":"69","author":"Donaghy","year":"2000","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"5","key":"10.1016\/j.nmd.2020.11.013_bib0011","doi-asserted-by":"crossref","first-page":"767","DOI":"10.1212\/WNL.59.5.767","article-title":"Corticosteroid- responsive asymmetric neuropathy with a myelin protein zero gene mutation","volume":"59","author":"Watanabe","year":"2002","journal-title":"Neurology"},{"issue":"5","key":"10.1016\/j.nmd.2020.11.013_bib0012","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1016\/j.nmd.2006.02.005","article-title":"Novel myelin protein zero mutation (Arg36Trp) in a patient with acute onset painful neuropathy","volume":"16","author":"Burns","year":"2006","journal-title":"Neuromuscul Disord"},{"issue":"11","key":"10.1016\/j.nmd.2020.11.013_bib0013","doi-asserted-by":"crossref","first-page":"1263","DOI":"10.1136\/jnnp.2006.112276","article-title":"Rapid progression of late onset axonal Charcot-Marie-Tooth disease associated with a novel MPZ mutation in the extracellular domain","volume":"78","author":"Laura","year":"2007","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"3","key":"10.1016\/j.nmd.2020.11.013_bib0014","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1097\/CND.0b013e3181c5058a","article-title":"Asymmetric phenotype associated with rare myelin protein zero mutation","volume":"11","author":"Souayah","year":"2010","journal-title":"J Clin Neuromuscul Dis"},{"key":"10.1016\/j.nmd.2020.11.013_bib0015","doi-asserted-by":"crossref","first-page":"52","DOI":"10.1016\/j.spen.2017.03.005","article-title":"Infantile-onset myelin protein zero-related demyelinating neuropathy presenting as an upper extremity monoplegia","volume":"26","author":"Yiu","year":"2018","journal-title":"Semin Pediatr Neurol"},{"issue":"7","key":"10.1016\/j.nmd.2020.11.013_bib0016","doi-asserted-by":"crossref","first-page":"621","DOI":"10.1002\/mus.880100706","article-title":"Conduction block in hereditary neuropathy with susceptibility to pressure palsies","volume":"10","author":"Sellman","year":"1987","journal-title":"Muscle Nerve"},{"issue":"10","key":"10.1016\/j.nmd.2020.11.013_bib0017","doi-asserted-by":"crossref","first-page":"1051","DOI":"10.1136\/jnnp-2015-310835","article-title":"Hereditary and inflammatory neuropathies: a review of reported associations, mimics and misdiagnoses","volume":"87","author":"Rajabally","year":"2016","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"2","key":"10.1016\/j.nmd.2020.11.013_bib0018","doi-asserted-by":"crossref","first-page":"138","DOI":"10.1111\/jns.12264","article-title":"Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2\u202fU","volume":"23","author":"Sagi-Dain","year":"2018","journal-title":"J Peripher Nerv Syst"},{"issue":"9","key":"10.1016\/j.nmd.2020.11.013_bib0019","doi-asserted-by":"crossref","first-page":"757","DOI":"10.1016\/j.nmd.2018.06.001","article-title":"Clinical spectrum, treatment and outcome of children with suspected diagnosis of chronic inflammatory demyelinating polyradiculoneuropathy","volume":"28","author":"Silwal","year":"2018","journal-title":"Neuromuscul Disord"},{"issue":"2","key":"10.1016\/j.nmd.2020.11.013_bib0020","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and clinical aspects of Charcot-Marie-Tooth's disease","volume":"6","author":"Skre","year":"1974","journal-title":"Clin Genet"},{"issue":"6","key":"10.1016\/j.nmd.2020.11.013_bib0021","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1002\/1531-8249(199912)46:6<910::AID-ANA14>3.0.CO;2-2","article-title":"Prevalence of chronic inflammatory demyelinating polyneuropathy in New South Wales, Australia","volume":"46","author":"McLeod","year":"1999","journal-title":"Ann Neurol"},{"issue":"1","key":"10.1016\/j.nmd.2020.11.013_bib0022","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1177\/0883073812471719","article-title":"Childhood chronic inflammatory demyelinating polyneuropathy: an overview of 10 cases in the modern era","volume":"29","author":"Ware","year":"2014","journal-title":"J Child Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2020.11.013_bib0023","doi-asserted-by":"crossref","first-page":"256","DOI":"10.1002\/mus.20881","article-title":"Severe Guillain-Barre syndrome associated with chromosome 17p11.2-12 duplication","volume":"37","author":"Munch","year":"2008","journal-title":"Muscle Nerve"},{"issue":"Pt 1","key":"10.1016\/j.nmd.2020.11.013_bib0024","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1093\/brain\/awh017","article-title":"Coexistent hereditary and inflammatory neuropathy","volume":"127","author":"Ginsberg","year":"2004","journal-title":"Brain"},{"issue":"8","key":"10.1016\/j.nmd.2020.11.013_bib0025","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/S1474-4422(04)00822-1","article-title":"Immune-mediated components of hereditary demyelinating neuropathies: lessons from animal models and patients","volume":"3","author":"Martini","year":"2004","journal-title":"Lancet Neurol"},{"issue":"6","key":"10.1016\/j.nmd.2020.11.013_bib0026","doi-asserted-by":"crossref","first-page":"645","DOI":"10.1007\/BF00318579","article-title":"Charcot-Marie-Tooth disease type 1A: morphological phenotype of the 17p duplication versus PMP22 point mutations","volume":"90","author":"Gabreels-Festen","year":"1995","journal-title":"Acta Neuropathol"},{"issue":"2","key":"10.1016\/j.nmd.2020.11.013_bib0027","doi-asserted-by":"crossref","first-page":"139","DOI":"10.1016\/S0165-5728(99)00269-6","article-title":"Anti-PMP22 antibodies in patients with inflammatory neuropathy","volume":"104","author":"Gabriel","year":"2000","journal-title":"J Neuroimmunol"},{"issue":"9","key":"10.1016\/j.nmd.2020.11.013_bib0028","doi-asserted-by":"crossref","first-page":"3396","DOI":"10.1523\/JNEUROSCI.19-09-03396.1999","article-title":"Peripheral myelin protein 22 and protein zero: a novel association in peripheral nervous system myelin","volume":"19","author":"D'Urso","year":"1999","journal-title":"J Neurosci"},{"issue":"6269","key":"10.1016\/j.nmd.2020.11.013_bib0029","doi-asserted-by":"crossref","first-page":"871","DOI":"10.1038\/344871a0","article-title":"Role of myelin P0 protein as a homophilic adhesion molecule","volume":"344","author":"Filbin","year":"1990","journal-title":"Nature"},{"issue":"4","key":"10.1016\/j.nmd.2020.11.013_bib0030","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1083\/jcb.142.4.1095","article-title":"Functional gap junctions in the schwann cell myelin sheath","volume":"142","author":"Balice-Gordon","year":"1998","journal-title":"J Cell Biol"},{"issue":"41","key":"10.1016\/j.nmd.2020.11.013_bib0031","doi-asserted-by":"crossref","first-page":"17528","DOI":"10.1073\/pnas.0905523106","article-title":"SH3TC2\/KIAA1985 protein is required for proper myelination and the integrity of the node of Ranvier in the peripheral nervous system","volume":"106","author":"Arnaud","year":"2009","journal-title":"Proc Natl Acad Sci U S A"},{"issue":"12","key":"10.1016\/j.nmd.2020.11.013_bib0032","doi-asserted-by":"crossref","first-page":"2191","DOI":"10.1007\/s000180200018","article-title":"The processing and presentation of endogenous and exogenous antigen by Schwann cells in vitro","volume":"59","author":"Lilje","year":"2002","journal-title":"Cell Mol Life Sci"},{"issue":"10","key":"10.1016\/j.nmd.2020.11.013_bib0033","doi-asserted-by":"crossref","first-page":"1472","DOI":"10.1002\/1097-4598(200010)23:10<1472::AID-MUS3>3.0.CO;2-#","article-title":"Electrophysiological features of inherited demyelinating neuropathies: a reappraisal in the era of molecular diagnosis","volume":"23","author":"Lewis","year":"2000","journal-title":"Muscle Nerve"},{"issue":"4","key":"10.1016\/j.nmd.2020.11.013_bib0034","doi-asserted-by":"crossref","first-page":"528","DOI":"10.1002\/mus.20292","article-title":"CMTX mimicking childhood chronic inflammatory demyelinating neuropathy with tremor","volume":"31","author":"Ryan","year":"2005","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.1016\/j.nmd.2020.11.013_bib0035","doi-asserted-by":"crossref","first-page":"64","DOI":"10.1016\/j.clinph.2003.08.024","article-title":"Inter-nerves and intra-nerve conduction heterogeneity in CMTX with Arg(15)Gln mutation","volume":"115","author":"Capasso","year":"2004","journal-title":"Clin Neurophysiol"},{"issue":"2","key":"10.1016\/j.nmd.2020.11.013_bib0036","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1002\/(SICI)1097-4598(200002)23:2<182::AID-MUS6>3.0.CO;2-W","article-title":"Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease","volume":"23","author":"Gutierrez","year":"2000","journal-title":"Muscle Nerve"},{"issue":"1","key":"10.1016\/j.nmd.2020.11.013_bib0037","doi-asserted-by":"crossref","first-page":"22","DOI":"10.1111\/jns.12152","article-title":"Are electrophysiological criteria useful in distinguishing childhood demyelinating neuropathies?","volume":"21","author":"Potulska-Chromik","year":"2016","journal-title":"J Peripher Nerv Syst"},{"issue":"10","key":"10.1016\/j.nmd.2020.11.013_bib0038","first-page":"1793","article-title":"MR imaging of the cauda equina in hereditary motor sensory neuropathies: correlations with sural nerve biopsy","volume":"21","author":"Cellerini","year":"2000","journal-title":"AJNR Am J Neuroradiol"},{"issue":"6","key":"10.1016\/j.nmd.2020.11.013_bib0039","doi-asserted-by":"crossref","first-page":"419","DOI":"10.5692\/clinicalneurol.48.419","article-title":"[Case of Charcot-Marie-Tooth disease type 1A with increased cerebrospinal fluid proteins and nerve root hypertrophy]","volume":"48","author":"Ishigami","year":"2008","journal-title":"Rinsho Shinkeigaku"},{"issue":"3","key":"10.1016\/j.nmd.2020.11.013_bib0040","doi-asserted-by":"crossref","first-page":"177","DOI":"10.1016\/S0887-8994(00)00237-X","article-title":"Chronic inflammatory demyelinating polyneuropathy in childhood","volume":"24","author":"Connolly","year":"2001","journal-title":"Pediatr Neurol"},{"issue":"2","key":"10.1016\/j.nmd.2020.11.013_bib0041","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1002\/mus.21703","article-title":"Atypical childhood chronic inflammatory demyelinating polyneuropathy","volume":"42","author":"Mohamed","year":"2010","journal-title":"Muscle Nerve"}],"container-title":["Neuromuscular Disorders"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620306787?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S0960896620306787?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2025,10,18]],"date-time":"2025-10-18T08:10:26Z","timestamp":1760775026000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S0960896620306787"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2021,2]]},"references-count":41,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2021,2]]}},"alternative-id":["S0960896620306787"],"URL":"https:\/\/doi.org\/10.1016\/j.nmd.2020.11.013","relation":{},"ISSN":["0960-8966"],"issn-type":[{"value":"0960-8966","type":"print"}],"subject":[],"published":{"date-parts":[[2021,2]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Genetic neuropathies presenting with CIDP-like features in childhood","name":"articletitle","label":"Article Title"},{"value":"Neuromuscular Disorders","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.nmd.2020.11.013","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2020 Published by Elsevier B.V.","name":"copyright","label":"Copyright"}]}}