{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,21]],"date-time":"2026-05-21T01:44:41Z","timestamp":1779327881446,"version":"3.51.4"},"reference-count":15,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2020,5,29]],"date-time":"2020-05-29T00:00:00Z","timestamp":1590710400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J Peripheral Nervous Sys"],"published-print":{"date-parts":[[2020,9]]},"abstract":"Abstract<\/jats:title>Peripheral myelin protein 22 (PMP22) related neuropathies account for over 50% of inherited peripheral neuropathies. A gene copy variation results in CMT1A (duplication) and hereditary neuropathy with liability to pressure palsies (HNPP; single deletion). Point mutations comprise both phenotypes. The underlying pathological mechanisms are incompletely understood and biallelic mutations of PMP22<\/jats:italic> are very rare. We describe a 9\u2010year\u2010old girl who presented before the age of 1\u2009year with severe locomotor delay. She now requires support for standing and walking in view of her severe sensory ataxia. Strikingly, her muscle power and bulk are close to normal in all segments. Nerve conduction studies showed sensory\u2010motor velocities below 5\u2009m\/s. Genetic analysis revealed a homozygous sequence change in the PMP22<\/jats:italic> gene causing the loss of termination codon (c.483A\u2009>\u2009G; p.[*161Trpext*10]), extending the protein by 9 amino acids. Both heterozygous parents have neurophysiological abnormalities consistent with HNPP, consistent with this being a loss\u2010of\u2010function mutation. PMP22\u2010deficient human models are rare but important to decipher the physiological function of the PMP22 protein in vivo. The predominance of large fiber sensory involvement in this and other rare similar cases suggests a pivotal role played by PMP22 in the embryogenesis of dorsal root ganglia in humans.<\/jats:p>","DOI":"10.1111\/jns.12386","type":"journal-article","created":{"date-parts":[[2020,5,16]],"date-time":"2020-05-16T03:27:04Z","timestamp":1589599624000},"page":"303-307","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":4,"title":["A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early\u2010onset Charcot\u2010Marie\u2010Tooth<\/scp> disease with predominant severe sensory ataxia"],"prefix":"10.1111","volume":"25","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-6539-5360","authenticated-orcid":false,"given":"Alberto A.","family":"Zambon","sequence":"first","affiliation":[{"name":"Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matthew","family":"Pitt","sequence":"additional","affiliation":[{"name":"Department of Clinical Neurophysiology Great Ormond Street Hospital for Children NHS Foundation Trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Matilde","family":"Laur\u00e0","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"James M.","family":"Polke","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Mary M.","family":"Reilly","sequence":"additional","affiliation":[{"name":"MRC Centre for Neuromuscular Diseases National Hospital for Neurology and Neurosurgery and UCL Queen Square Institute of Neurology London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Francesco","family":"Muntoni","sequence":"additional","affiliation":[{"name":"Dubowitz Neuromuscular Centre UCL Great Ormond Street Institute of Child Health & Great Ormond Street Hospital London UK"},{"name":"NIHR Great Ormond Street Hospital Biomedical Research Centre, Great Ormond Street Institute of Child Health University College London & Great Ormond Street Hospital Trust London UK"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2020,5,29]]},"reference":[{"key":"e_1_2_5_2_1","doi-asserted-by":"publisher","DOI":"10.1016\/S1474-4422(09)70110-3"},{"key":"e_1_2_5_3_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1529-8027.2008.00182.x"},{"key":"e_1_2_5_4_1","doi-asserted-by":"publisher","DOI":"10.1186\/1750-1172-9-38"},{"key":"e_1_2_5_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.70.1.123"},{"key":"e_1_2_5_6_1","doi-asserted-by":"publisher","DOI":"10.1002\/1531-8249(199904)45:4<518::AID-ANA15>3.0.CO;2-U"},{"key":"e_1_2_5_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32456"},{"key":"e_1_2_5_8_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.106"},{"key":"e_1_2_5_9_1","doi-asserted-by":"publisher","DOI":"10.1001\/archneurol.2011.110"},{"key":"e_1_2_5_10_1","first-page":"173","article-title":"A case of severe early\u2010onset neuropathy caused by a compound heterozygous 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