{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,4]],"date-time":"2026-10-04T07:26:57Z","timestamp":1791098817575,"version":"4.1.0"},"reference-count":17,"publisher":"Wiley","issue":"2","license":[{"start":{"date-parts":[[2008,7,18]],"date-time":"2008-07-18T00:00:00Z","timestamp":1216339200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2008,8]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>In this study we describe four patients from the same kindred who were affected by an autosomal\u2010dominantly inherited peripheral neuropathy. They presented an unusual combination of clinical, electrophysiological, and pathological findings in association with a new mutation of the PMP22 gene. Clinically, three patients had carpal tunnel syndrome symptoms and one patient had late\u2010onset peroneal atrophy. Motor and sensory nerve conduction velocities were reduced without focal slowing at entrapment sites. Nerve biopsy disclosed diffuse hypomyelination with focal thickening of the myelin sheath in some fibers. Sequence analysis of the PMP22 gene showed a single\u2010nucleotide deletion (227delG) in the affected patients. This mutation, which has not been reported previously, leads to an open reading frame shift and probably to a truncated and unstable PMP22 protein. We conclude that this novel 227delG mutation of PMP22 gives a mild form of hereditary neuropathy with liability to pressure palsy with atypical clinical and electrophysiological findings. Muscle Nerve, 2008<\/jats:p>","DOI":"10.1002\/mus.21083","type":"journal-article","created":{"date-parts":[[2008,7,18]],"date-time":"2008-07-18T20:39:50Z","timestamp":1216413590000},"page":"1060-1064","source":"Crossref","is-referenced-by-count":16,"title":["A new single\u2010nucleotide deletion of PMP22 in an HNPP family without recurrent palsies"],"prefix":"10.1002","volume":"38","author":[{"given":"Marco","family":"Luigetti","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amelia","family":"Conte","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francesca","family":"Madia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Lucia","family":"Mereu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marcella","family":"Zollino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Marangi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Grazia","family":"Pomponi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giuseppe","family":"Liberatore","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Pietro Altilio","family":"Tonali","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mario","family":"Sabatelli","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2008,7,28]]},"reference":[{"key":"e_1_2_7_2_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2005.075242"},{"key":"e_1_2_7_3_2","doi-asserted-by":"publisher","DOI":"10.1002\/glia.20386"},{"key":"e_1_2_7_4_2","doi-asserted-by":"publisher","DOI":"10.1385\/NMM:8:1-2:159"},{"key":"e_1_2_7_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(93)90058-X"},{"key":"e_1_2_7_6_2","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1007\/s100720300072","article-title":"Hereditary neuropathy with liability to pressure palsies: electrophysiological and genetic study of a family with carpal tunnel syndrome as only clinical manifestation","volume":"24","author":"Del Colle R","year":"2003","journal-title":"Neurol Sci"},{"key":"e_1_2_7_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/B978-0-7216-9491-7.50073-9"},{"key":"e_1_2_7_8_2","doi-asserted-by":"publisher","DOI":"10.1016\/0092-8674(91)90613-4"},{"key":"e_1_2_7_9_2","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-006-0030-8"},{"key":"e_1_2_7_10_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.52.7.1440"},{"key":"e_1_2_7_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jns.2007.05.034"},{"key":"e_1_2_7_12_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.37.5.396"},{"key":"e_1_2_7_13_2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1999)13:1<11::AID-HUMU2>3.0.CO;2-A"},{"key":"e_1_2_7_14_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.46.4.1133"},{"key":"e_1_2_7_15_2","doi-asserted-by":"publisher","DOI":"10.1021\/bi010894f"},{"key":"e_1_2_7_16_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.3.465"},{"key":"e_1_2_7_17_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/120.1.47"},{"key":"e_1_2_7_18_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(02)00025-1"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.21083","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.21083","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,11,14]],"date-time":"2023-11-14T10:43:34Z","timestamp":1699958614000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.21083"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,7,28]]},"references-count":17,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2008,8]]}},"alternative-id":["10.1002\/mus.21083"],"URL":"https:\/\/doi.org\/10.1002\/mus.21083","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2008,7,28]]}}}