{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,19]],"date-time":"2026-09-19T01:11:30Z","timestamp":1789780290197,"version":"4.0.1"},"reference-count":8,"publisher":"Wiley","issue":"5","license":[{"start":{"date-parts":[[2015,6,19]],"date-time":"2015-06-19T00:00:00Z","timestamp":1434672000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"funder":[{"DOI":"10.13039\/100000065","name":"National Institute of Neurological Disorders and Stroke","doi-asserted-by":"crossref","award":["U54NS065712"],"award-info":[{"award-number":["U54NS065712"]}],"id":[{"id":"10.13039\/100000065","id-type":"DOI","asserted-by":"crossref"}]}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Muscle and Nerve"],"published-print":{"date-parts":[[2015,11]]},"abstract":"<jats:title>ABSTRACT<\/jats:title><jats:p><jats:italic>Introduction:<\/jats:italic> We describe a 6\u2010year\u2010old girl with a T118M <jats:italic>PMP22<\/jats:italic> mutation and heterozygous deletion of <jats:italic>PMP22<\/jats:italic> on chromosome 17 (17p11.2\u2010p12) resulting in a severe sensorimotor polyneuropathy. <jats:italic>Methods:<\/jats:italic> This study is a case report in which the relevant mutations are described. <jats:italic>Results:<\/jats:italic> Foot pain, cavovarus feet, tibialis anterior atrophy, absent reflexes, and inability to walk were found when the patient was age 6 years. Nerve conduction studies showed evidence of a sensorimotor polyneuropathy and compressive mononeuropathies of bilateral median nerves at the wrist and ulnar nerves at the elbow. Genetic testing revealed deletion of a <jats:italic>PMP22<\/jats:italic> allele and T118M <jats:italic>PMP22<\/jats:italic> mutation in the remaining allele. <jats:italic>Conclusions:<\/jats:italic> The severe sensorimotor polyneuropathy and hereditary neuropathy with liability to pressure palsies (HNPP) in this patient was likely a consequence of both decreased expression of <jats:italic>PMP22<\/jats:italic> causing features consistent with HNPP and unopposed expression of the T118M mutant form of <jats:italic>PMP22<\/jats:italic> that is relatively benign in the heterozygous state. The T118M mutant form of <jats:italic>PMP22<\/jats:italic> can be disease\u2010modifying in the appropriate circumstances. <jats:italic>Muscle Nerve<\/jats:italic> <jats:bold>52<\/jats:bold>: 905\u2013908, 2015<\/jats:p>","DOI":"10.1002\/mus.24713","type":"journal-article","created":{"date-parts":[[2015,5,27]],"date-time":"2015-05-27T14:17:04Z","timestamp":1432736224000},"page":"905-908","source":"Crossref","is-referenced-by-count":10,"title":["Coexistence of a T118M <i>PMP22<\/i> missense mutation and chromosome 17 (17p11.2\u2010p12) deletion"],"prefix":"10.1002","volume":"52","author":[{"given":"Nivedita U.","family":"Jerath","sequence":"first","affiliation":[{"name":"Department of Neurology Carver College of Medicine, University of Iowa 200 Hawkins Drive Iowa City Iowa 52246 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"John","family":"Kamholz","sequence":"additional","affiliation":[{"name":"Department of Neurology Carver College of Medicine, University of Iowa 200 Hawkins Drive Iowa City Iowa 52246 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tiffany","family":"Grider","sequence":"additional","affiliation":[{"name":"Department of Neurology Carver College of Medicine, University of Iowa 200 Hawkins Drive Iowa City Iowa 52246 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Amy","family":"Harper","sequence":"additional","affiliation":[{"name":"Department of Pediatric Neurology Carolinas Healthcare System Charlotte North Carolina USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Andrea","family":"Swenson","sequence":"additional","affiliation":[{"name":"Department of Neurology Carver College of Medicine, University of Iowa 200 Hawkins Drive Iowa City Iowa 52246 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Michael E.","family":"Shy","sequence":"additional","affiliation":[{"name":"Department of Neurology Carver College of Medicine, University of Iowa 200 Hawkins Drive Iowa City Iowa 52246 USA"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2015,6,19]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1002\/mus.10521"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.11.011"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1002\/ana.20777"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1749-6632.1999.tb08617.x"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2466-13-49"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1111\/jns5.12024"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/ng1093-189"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2004.048140"}],"container-title":["Muscle &amp; Nerve"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24713","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.wiley.com\/onlinelibrary\/tdm\/v1\/articles\/10.1002%2Fmus.24713","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1002\/mus.24713","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2023,10,5]],"date-time":"2023-10-05T07:17:25Z","timestamp":1696490245000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mus.24713"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015,6,19]]},"references-count":8,"journal-issue":{"issue":"5","published-print":{"date-parts":[[2015,11]]}},"alternative-id":["10.1002\/mus.24713"],"URL":"https:\/\/doi.org\/10.1002\/mus.24713","archive":["Portico"],"relation":{},"ISSN":["0148-639X","1097-4598"],"issn-type":[{"value":"0148-639X","type":"print"},{"value":"1097-4598","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015,6,19]]}}}