{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,7]],"date-time":"2026-08-07T16:19:06Z","timestamp":1786119546398,"version":"build-2736575974"},"reference-count":10,"publisher":"Ovid Technologies (Wolters Kluwer Health)","issue":"4","content-domain":{"domain":["lww.com","ovid.com"],"crossmark-restriction":true},"short-container-title":[],"published-print":{"date-parts":[[2010,6]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:sec>\n                    <jats:title\/>\n                    <jats:p>We describe a previously asymptomatic patient who developed acute onset sensory symptoms which gradually resolved spontaneously. Neurologic examination revealed pes cavus, and motor nerve conduction studies were consistent with Charcot-Marie-Tooth disease type 1. Genetic testing later showed the presence of a novel frameshift mutation within the transmembrane domain of the myelin protein zero gene (Leu144fs). This case suggests that this novel myelin protein zero mutation, as others reported previously, also results in a mild phenotype with late-onset neurologic symptoms and may be accompanied by remitting sensory disturbances.<\/jats:p>\n                  <\/jats:sec>","DOI":"10.1097\/cnd.0b013e3181a84bb8","type":"journal-article","created":{"date-parts":[[2010,5,30]],"date-time":"2010-05-30T11:34:19Z","timestamp":1275219259000},"page":"187-190","update-policy":"https:\/\/doi.org\/10.1097\/lww.0000000000001000","source":"Crossref","is-referenced-by-count":3,"title":["Charcot-Marie-Tooth Disease due to Novel Myelin Protein Zero Mutation Presenting as Late-Onset Remitting Sensory Neuropathy"],"prefix":"10.1097","volume":"11","author":[{"given":"Benjamin S","family":"Simpson","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yusuf A","family":"Rajabally","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"276","reference":[{"key":"R1-1-20240808","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"},{"key":"R2-1-20240808","doi-asserted-by":"crossref","first-page":"451","DOI":"10.1016\/S0896-6273(00)80177-4","article-title":"Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.","volume":"17","author":"Warner","year":"1996","journal-title":"Neuron"},{"key":"R3-1-20240808","doi-asserted-by":"crossref","first-page":"371","DOI":"10.1093\/brain\/awh048","article-title":"Phenotypic clustering in MPZ mutations.","volume":"127","author":"Shy","year":"2004","journal-title":"Brain"},{"key":"R4-1-20240808","doi-asserted-by":"crossref","first-page":"232","DOI":"10.1136\/jnnp.70.2.232","article-title":"Mild recurrent neuropathy in CMT1b with a novel nonsense mutation in the extracellular domain of the MPZ gene.","volume":"70","author":"Lagueny","year":"2001","journal-title":"J Neurol Neurosurg Psychiatry"},{"key":"R5-1-20240808","doi-asserted-by":"crossref","first-page":"373","DOI":"10.1002\/mus.10404","article-title":"Inflammatory demyelination in a patient with CMT1A.","volume":"28","author":"Vital","year":"2003","journal-title":"Muscle Nerve"},{"key":"R6-1-20240808","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"},{"key":"R7-1-20240808","doi-asserted-by":"crossref","first-page":"93","DOI":"10.1016\/S0022-510X(03)00059-5","article-title":"Axonal Guillain-Barre syndrome associated with axonal Charcot-Marie-Tooth disease.","volume":"211","author":"Odaka","year":"2003","journal-title":"J Neurol Sci"},{"key":"R8-1-20240808","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"},{"key":"R9-1-20240808","doi-asserted-by":"crossref","first-page":"7","DOI":"10.1111\/j.1085-9489.2004.09103.x","article-title":"Sensory manifestations in Charcot-Marie-Tooth disease.","volume":"9","author":"Gemignani","year":"2004","journal-title":"J Periph Nerv Syst"},{"key":"R10-1-20240808","first-page":"1073","article-title":"Neuronal involvement in cisplatin neuropathy: prospective clinical and neurophysiological studies.","volume":"130","author":"Krarup-Hansen","year":"2007","journal-title":"Brain"}],"container-title":["Journal of Clinical Neuromuscular Disease"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.ovid.com\/00131402-201006000-00001","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,8,6]],"date-time":"2026-08-06T18:24:50Z","timestamp":1786040690000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.ovid.com\/00131402-201006000-00001"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2010,6]]},"references-count":10,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2010]]}},"URL":"https:\/\/doi.org\/10.1097\/cnd.0b013e3181a84bb8","relation":{},"ISSN":["1522-0443"],"issn-type":[{"value":"1522-0443","type":"print"}],"subject":[],"published":{"date-parts":[[2010,6]]}}}