{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,2]],"date-time":"2026-09-02T14:02:52Z","timestamp":1788357772126,"version":"build-2803163510"},"reference-count":28,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2014,10,30]],"date-time":"2014-10-30T00:00:00Z","timestamp":1414627200000},"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":[[2014,12]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction<\/jats:italic>: The first episode of hereditary neuropathy with liability to pressure palsy (HNPP) in childhood is rare. <jats:italic>Methods<\/jats:italic>: We analyzed retrospectively the data of 7 patients with a deletion in <jats:italic>PMP22<\/jats:italic> and onset of symptoms before age 18 years. Direct sequencing of the <jats:italic>LITAF<\/jats:italic> (lipopolysaccharide\u2010induced tumor necrosis factor) gene was performed in patients and family members. <jats:italic>Results<\/jats:italic>: Clinical presentations varied from mononeuropathies to brachial plexopathy, with recurrent episodes in 4 patients. Electrophysiological abnormalities characteristic for HNNP were found in most subjects. Analysis of the <jats:italic>LITAF<\/jats:italic> gene revealed an Ile92Val polymorphism in 6 of 7 (86%) probands and 5 of 7 (83%) family members, over 4 times greater frequency than in the general population. <jats:italic>Conclusions<\/jats:italic>: Clinical suspicion of HNPP even when nerve conduction study results do not fulfill HNPP criteria should indicate genetic testing. In our patients, early\u2010onset HNPP was associated frequently with isoleucine92valine <jats:italic>LITAF<\/jats:italic> polymorphism. <jats:italic>Muscle Nerve<\/jats:italic> 50: 914\u2013918, 2014<\/jats:p>","DOI":"10.1002\/mus.24250","type":"journal-article","created":{"date-parts":[[2014,3,26]],"date-time":"2014-03-26T05:54:42Z","timestamp":1395813282000},"page":"914-918","source":"Crossref","is-referenced-by-count":22,"title":["Clinical, electrophysiological, and molecular findings in early onset hereditary neuropathy with liability to pressure palsy"],"prefix":"10.1002","volume":"50","author":[{"given":"Anna","family":"Potulska\u2010Chromik","sequence":"first","affiliation":[{"name":"Department of Neurology Medical University of Warsaw Banacha 1a Street 02\u2013097 Warsaw Poland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Elena","family":"Sinkiewicz\u2010Darol","sequence":"additional","affiliation":[{"name":"Neuromuscular Unit, Mossakowski Medical Research 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