{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,24]],"date-time":"2026-10-24T14:59:41Z","timestamp":1792853981658,"version":"4.5.0"},"reference-count":155,"publisher":"MDPI AG","issue":"11","license":[{"start":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T00:00:00Z","timestamp":1761696000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Genes"],"abstract":"<jats:p>Background. PMP22-related neuropathies comprise a spectrum of predominantly demyelinating disorders, most commonly Charcot\u2013Marie\u2013Tooth type 1A (CMT1A; 17p12 duplication) and hereditary neuropathy with liability to pressure palsies (HNPP; 17p12 deletion), with rarer phenotypes due to PMP22 sequence variants (CMT1E, Dejerine\u2013Sottas syndrome [DSS]). Methods. We conducted a PRISMA-compliant systematic review (PROSPERO ID: 1139921) of PubMed and Scopus (January 2015\u2013August 2025). Eligible studies reported genetically confirmed PMP22-related neuropathies with clinical and\/or neurophysiological data. Owing to heterogeneous reporting, we synthesized pooled counts and proportions without meta-analysis, explicitly tracking missing denominators. Results. One hundred twenty-seven studies (n = 4493 patients) were included. Sex was available for 995 patients (males 53.8% [535\/995]; females 46.2% [460\/995]); mean age at onset was 23.7 years in males and 16.4 years in females. Phenotypic classification was reported for 4431\/4493 (75.4% CMT1A, 20.9% HNPP, 2.6% CMT1E, 1.2% DSS). Across phenotypes, weakness\/foot drop was the leading presenting symptom when considering only cohorts that explicitly reported it (e.g., 65.3% in CMT1A; 76.0% in HNPP); sensory complaints (numbness, paresthesia\/dysesthesia) were variably documented. Neurophysiology consistently showed demyelinating patterns, with median and ulnar nerves most frequently abnormal among assessed nerves; in HNPP, deep peroneal and sural involvement were also common in evaluated subsets. Comorbidities clustered by phenotype: orthopedic\/neuromuscular features (pes cavus\/hammer toes, scoliosis\/kyphosis, tremor) in CMT1A and DSS; broader metabolic\/autoimmune and neurodevelopmental associations in HNPP; and higher syndromic\/ocular\/hearing involvement in CMT1E. Genetically, 75.6% (3241\/4291) had 17p12 duplication, 19.6% (835\/4291) 17p12 deletion, and 4.8% (215\/4291) PMP22 sequence variants with marked allelic heterogeneity. Among 2571 cases with available methods, MLPA was most used (41.9%), followed by NGS (20.4%) and Sanger sequencing (17.8%). Main limitations include heterogeneous and incomplete reporting across studies (especially symptoms and nerve-specific data) and the absence of a formal risk-of-bias appraisal, which preclude meta-analysis and may skew phenotype proportions toward more frequently reported entities (e.g., CMT1A). Conclusions. Recent literature confirms that PMP22 copy-number variants account for the vast majority of cases, while sequence-level variants underpin a minority with distinct phenotypes (notably CMT1E\/DSS). Routine MLPA, complemented by targeted\/NGS, optimizes diagnostic yield. Standardized reporting of nerve-conduction parameters and symptom denominators is urgently needed to enable robust cross-study comparisons in both pediatric and adult populations.<\/jats:p>","DOI":"10.3390\/genes16111279","type":"journal-article","created":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T17:38:22Z","timestamp":1761759502000},"page":"1279","update-policy":"https:\/\/doi.org\/10.3390\/mdpi_crossmark_policy","source":"Crossref","is-referenced-by-count":10,"title":["PMP22-Related Neuropathies: A Systematic Review"],"prefix":"10.3390","volume":"16","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-0092-5604","authenticated-orcid":false,"given":"Carlo Alberto","family":"Cesaroni","sequence":"first","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"},{"name":"Laboratorio di Neurofisiologia Pediatrica, Dipartimento Materno-Infantile, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Caiazza","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0005-2730-2791","authenticated-orcid":false,"given":"Giulia","family":"Pisan\u00f2","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Martina","family":"Gnazzo","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Giulia","family":"Sigona","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8856-9722","authenticated-orcid":false,"given":"Susanna","family":"Rizzi","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0000-1501-0146","authenticated-orcid":false,"given":"Agnese","family":"Pantani","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniele","family":"Frattini","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9321-0952","authenticated-orcid":false,"given":"Carlo","family":"Fusco","sequence":"additional","affiliation":[{"name":"Child Neurology and Psychiatry Unit, Dipartimento Materno-Infantile, Presidio Ospedaliero Santa Maria Nuova, AUSL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"},{"name":"Laboratorio di Neurofisiologia Pediatrica, Dipartimento Materno-Infantile, Azienda USL-IRCCS di Reggio Emilia, 42123 Reggio Emilia, Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1968","published-online":{"date-parts":[[2025,10,29]]},"reference":[{"key":"ref_1","doi-asserted-by":"crossref","first-page":"925","DOI":"10.1002\/acn3.51561","article-title":"Candidate imaging biomarkers for PMP22-related inherited neuropathies","volume":"9","author":"Roth","year":"2022","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_2","doi-asserted-by":"crossref","first-page":"673","DOI":"10.1007\/s12035-012-8370-x","article-title":"The PMP22 gene and its related diseases NIH public access author manuscript","volume":"47","author":"Li","year":"2013","journal-title":"Mol. Neurobiol."},{"key":"ref_3","doi-asserted-by":"crossref","unstructured":"Savasta, S., Serra, F., Galimberti, L., Comisi, F.F., Cossu, M., Vannelli, A., Masala, M., Tanca, S., and Murru, S. (2025). Case Report: Hereditary neuropathy with liability to pressure palsy (HNPP): The role of genetic investigation in diagnostic assessment. Front. Genet., 16.","DOI":"10.3389\/fgene.2025.1613022"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"902","DOI":"10.1016\/j.neurol.2023.01.728","article-title":"A case report of two Moroccan patients with hereditary neurological disorders and molecular modeling study on the S72L de novo PMP22 variant","volume":"179","author":"Dafrallah","year":"2023","journal-title":"Rev. Neurol."},{"key":"ref_5","doi-asserted-by":"crossref","unstructured":"Jung, N.Y., Kwon, H.M., Nam, D.E., Tamanna, N., Lee, A.J., Kim, S.B., Choi, B.-O., and Chung, K.W. (2022). Peripheral myelin protein 22 gene mutations in Charcot-Marie-Tooth disease type 1E patients. Genes, 13.","DOI":"10.3390\/genes13071219"},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"1655","DOI":"10.1007\/s00415-017-8474-3","article-title":"Intermediate Charcot-Marie-Tooth disease: An electrophysiological reappraisal and systematic review","volume":"264","author":"Berciano","year":"2017","journal-title":"J. Neurol."},{"key":"ref_7","doi-asserted-by":"crossref","first-page":"284","DOI":"10.1136\/jmedgenet-2019-106641","article-title":"Comprehensive genetic sequence and copy number analysis for Charcot-Marie-Tooth disease in a Canadian cohort of 2517 patients","volume":"58","author":"Volodarsky","year":"2021","journal-title":"J. Med. Genet."},{"key":"ref_8","doi-asserted-by":"crossref","unstructured":"Wu, R., Lv, H., Zhang, W., Wang, Z., Zuo, Y., Liu, J., and Yuan, Y. (2017). Clinical and Pathological Variation of Charcot-Marie-Tooth 1A in a Large Chinese Cohort. Biomed. Res. Int., 2017.","DOI":"10.1155\/2017\/6481367"},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1007\/s10072-008-0935-0","article-title":"Charcot-Marie-Tooth and pain: Correlations with neurophysiological, clinical, and disability findings","volume":"29","author":"Padua","year":"2008","journal-title":"Neurol. Sci."},{"key":"ref_10","unstructured":"Adam, M.P., Feldman, J., Mirzaa, G.M., Pagon, R.A., Wallace, S.E., and Amemiya, A. (2020). Hereditary Neuropathy with Liability to Pressure Palsies, University of Washington."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"fcad139","DOI":"10.1093\/braincomms\/fcad139","article-title":"Whole-genome sequencing in clinically diagnosed Charcot-Marie-Tooth disease undiagnosed by whole-exome sequencing","volume":"5","author":"Kim","year":"2023","journal-title":"Brain Commun."},{"key":"ref_12","unstructured":"Nagappa, M., Sharma, S., and Taly, A.B. (2024). Charcot-Marie-Tooth Disease, StatPearls."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"n71","DOI":"10.1136\/bmj.n71","article-title":"The PRISMA 2020 statement: An updated guideline for reporting systematic reviews","volume":"372","author":"Page","year":"2021","journal-title":"BMJ"},{"key":"ref_14","doi-asserted-by":"crossref","unstructured":"Antoniadi, T., Buxton, C., Dennis, G., Forrester, N., Smith, D., Lunt, P., and Burton-Jones, S. (2015). Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability. BMC Med. Genet., 16.","DOI":"10.1186\/s12881-015-0224-8"},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2373","DOI":"10.1007\/s00415-015-7896-z","article-title":"A patient with PMP22-related hereditary neuropathy and DBH-gene-related dysautonomia","volume":"262","author":"Chiaro","year":"2015","journal-title":"J. Neurol."},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"182","DOI":"10.1055\/s-0042-1743438","article-title":"Unexpected Intermediate Nerve Conduction Velocity Findings in Charcot-Marie-Tooth Syndromes Classified as Demyelinated or Axonal in a Pediatric Population","volume":"53","author":"Baudou","year":"2022","journal-title":"Neuropediatrics"},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"505","DOI":"10.3233\/JND-190460","article-title":"A New Point Mutation in the PMP22 Gene in a Family Suffering from Atypical HNPP","volume":"7","author":"Benquey","year":"2020","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"e16572","DOI":"10.1111\/ene.16572","article-title":"Delineating the genetic landscape of Charcot-Marie-tooth disease in T\u00fcrkiye: Distinct distribution, rare phenotypes, and novel variants","volume":"32","author":"Cakar","year":"2025","journal-title":"Eur. J. Neurol."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/jns.12362","article-title":"Sporadic hereditary neuropathies misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: Pitfalls and red flags","volume":"25","author":"Campagnolo","year":"2020","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"376","DOI":"10.1177\/19418744231174396","article-title":"Hereditary Neuropathy with Liability to Pressure Palsy Detected During the Use of Recreational Drugs","volume":"13","author":"Castellucci","year":"2023","journal-title":"Neurohospitalist"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.nmd.2019.02.005","article-title":"Wrist drop in an arcade dancing game: Unusual sudden bilateral radial palsy","volume":"29","author":"Cea","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"439","DOI":"10.1111\/cge.13616","article-title":"Genetic spectrum and clinical profiles in a southeast Chinese cohort of Charcot-Marie-Tooth disease","volume":"96","author":"Chen","year":"2019","journal-title":"Clin. Genet."},{"key":"ref_23","doi-asserted-by":"crossref","unstructured":"Chen, Z., Saini, M., Neo, S.X.M., Ng, P.S., Koh, J.S., Prasad, K., Verma, K., Davila, S., Lim, W.K., and Phua, Z. (2022). Acute to Subacute Atraumatic Entrapment Neuropathies in Patients with CMT1A: A Report of a Distinct Phenotypic Variant of CMT1A. Front. Neurol., 13.","DOI":"10.3389\/fneur.2022.826634"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.jocn.2017.10.049","article-title":"Spinobulbar muscular atrophy combined with atypical hereditary neuropathy with liability to pressure palsy","volume":"48","author":"Choi","year":"2018","journal-title":"J. Clin. Neurosci."},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"479","DOI":"10.1002\/mus.27687","article-title":"Utility of Carpal Tunnel Release and Ulnar Decompression in CMT1A and HNPP","volume":"66","author":"Chompoopong","year":"2022","journal-title":"Muscle Nerve"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"693","DOI":"10.1016\/j.nmd.2015.06.463","article-title":"Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update","volume":"25","author":"Chrestian","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"353","DOI":"10.1002\/ana.25009","article-title":"Natural history of Charcot-Marie-Tooth disease during childhood","volume":"82","author":"Cornett","year":"2017","journal-title":"Ann. Neurol."},{"key":"ref_28","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1055\/s-0039-3400985","article-title":"A Case of Severe Early-Onset Neuropathy Caused by a Compound Heterozygous Deletion of the PMP22 Gene: Clinical and Neurographic Aspects","volume":"51","author":"Tessarollo","year":"2020","journal-title":"Neuropediatrics"},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1016\/j.neucli.2022.09.007","article-title":"Young infants with PMP22 duplication can have minor nerve conduction study abnormalities","volume":"52","author":"Davion","year":"2022","journal-title":"Neurophysiol. Clin."},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"103071","DOI":"10.1016\/j.neucli.2025.103071","article-title":"Guillain-Barr\u00e9 syndrome in patients with Charcot-Marie-Tooth type 1A disease, probably a non-random association","volume":"55","author":"Davion","year":"2025","journal-title":"Neurophysiol. Clin."},{"key":"ref_31","doi-asserted-by":"crossref","unstructured":"De Kock, L., Van der Cruyssen, F., Gruijthuijsen, L., and Politis, C. (2021). Facial Paresthesia, a Rare Manifestation of Hereditary Neuropathy with Liability to Pressure Palsies: A Case Report. Front. Neurol., 12.","DOI":"10.3389\/fneur.2021.726437"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"99","DOI":"10.1590\/0004-282X20160010","article-title":"Clinical and neurophysiological features of the hereditary neuropathy with liability to pressure palsy due to the 17p11.2 deletion","volume":"74","author":"Pereira","year":"2016","journal-title":"Arq. Neuropsiquiatr."},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"83","DOI":"10.1016\/j.msard.2019.07.015","article-title":"A special association between Charcot-Marie-Tooth type 1A disease and relapsing remitting multiple sclerosis","volume":"35","author":"Ceylan","year":"2019","journal-title":"Mult. Scler. Relat. Disord."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"61","DOI":"10.1515\/sjpain-2019-0090","article-title":"Pain and small-fiber affection in hereditary neuropathy with liability to pressure palsies (HNPP)","volume":"20","author":"Dukefoss","year":"2019","journal-title":"Scand. J. Pain"},{"key":"ref_35","doi-asserted-by":"crossref","unstructured":"Endres, D., Maier, S.J., Ziegler, C., Nickel, K., Riering, A.N., Berger, B., Lambeck, J., Fritz, M., Gl\u00e4ser, B., and Stock, F. (2019). Schizophrenia and Hereditary Polyneuropathy: PMP22 Deletion as a Common Pathophysiological Link?. Front. Psychiatry, 10.","DOI":"10.3389\/fpsyt.2019.00270"},{"key":"ref_36","doi-asserted-by":"crossref","unstructured":"Ferese, R., Campopiano, R., Scala, S., D\u2019Alessio, C., Storto, M., Buttari, F., Centonze, D., Logroscino, G., Zecca, C., and Zampatti, S. (2021). Cohort Analysis of 67 Charcot-Marie-Tooth Italian Patients: Identification of New Mutations and Broadening of Phenotype Expression Produced by Rare Variants. Front. Genet., 12.","DOI":"10.3389\/fgene.2021.682050"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"106829","DOI":"10.1016\/j.clineuro.2021.106829","article-title":"Characterization of a Portuguese family with Charcot-Marie-Tooth disease type 1E due to a novel point mutation in the PMP22 gene","volume":"208","author":"Fernandes","year":"2021","journal-title":"Clin. Neurol. Neurosurg."},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"879","DOI":"10.1002\/ccr3.645","article-title":"Co-segregation of a homozygous SMN1 deletion and a heterozygous PMP22 duplication in a patient","volume":"4","author":"Borrego","year":"2016","journal-title":"Clin. Case Rep."},{"key":"ref_39","doi-asserted-by":"crossref","first-page":"1400","DOI":"10.1002\/acn3.51133","article-title":"Fatigue in patients with hereditary neuropathy with liability to pressure palsies","volume":"7","author":"Fritz","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"97","DOI":"10.1186\/s13052-017-0414-4","article-title":"Hereditary neuropathy with liability to pressure palsy (HNPP): Report of a family with a new point mutation in PMP22 gene","volume":"43","author":"Fusco","year":"2017","journal-title":"Ital. J. Pediatr."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1007\/s10072-017-3195-z","article-title":"Reversible inflammatory neuropathy superimposed on Charcot-Marie-Tooth type 1A disease","volume":"39","author":"Gazulla","year":"2018","journal-title":"Neurol. Sci."},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"1239","DOI":"10.1007\/s10072-019-04219-1","article-title":"Charcot-Marie-Tooth disease: Experience from a large Italian tertiary neuromuscular center","volume":"41","author":"Gentile","year":"2020","journal-title":"Neurol. Sci."},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"428","DOI":"10.24953\/turkjped.2019.03.017","article-title":"Charcot-Marie-Tooth 1A concurrent with anaplastic ependymoma in a toddler: When an acute event unmasks a chronic condition","volume":"61","author":"Gogou","year":"2019","journal-title":"Turk. J. Pediatr."},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"e83","DOI":"10.1016\/j.jstrokecerebrovasdis.2016.03.031","article-title":"A Case of Apoplexy Attack-Like Neuropathy due to Hereditary Neuropathy with Liability to Pressure Palsies in a Patient Diagnosed with Chronic Cerebral Infarction","volume":"25","author":"Hachisuka","year":"2016","journal-title":"J. Stroke Cerebrovasc. Dis."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"e25163","DOI":"10.1097\/MD.0000000000025163","article-title":"A novel PMP22 insertion mutation causing Charcot-Marie-Tooth disease type 3: A case report","volume":"100","author":"Han","year":"2021","journal-title":"Medicine"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"2846","DOI":"10.1111\/ene.14950","article-title":"Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study","volume":"28","author":"Hauw","year":"2021","journal-title":"Eur. J. Neurol."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"216","DOI":"10.1111\/jns.12277","article-title":"Clinical and genetic investigation in Chinese patients with demyelinating Charcot-Marie-Tooth disease","volume":"23","author":"He","year":"2018","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"452","DOI":"10.1016\/j.arcped.2018.09.006","article-title":"Retrospective study of 75 children with peripheral inherited neuropathy: Genotype-phenotype correlations","volume":"25","author":"Hoebeke","year":"2018","journal-title":"Arch. Pediatr."},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1090","DOI":"10.1002\/acn3.50797","article-title":"Mutation spectrum of Charcot-Marie-Tooth disease among the Han Chinese in Taiwan","volume":"6","author":"Hsu","year":"2019","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"161","DOI":"10.11152\/mu-3938","article-title":"Evaluation of the median nerve by shear wave elastography in patients with Charcot-Marie-Tooth disease type 1A","volume":"25","author":"Huang","year":"2023","journal-title":"Med. Ultrason."},{"key":"ref_51","first-page":"808","article-title":"A Life-Saving Palsy: Hereditary Neuropathy with Liability to Pressure Palsies (HNPP) Presenting As Hand Weakness during Cardiopulmonary Resuscitation (CPR) Training","volume":"111","author":"Hughes","year":"2018","journal-title":"Ir. Med. J."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"282","DOI":"10.5606\/tftrd.2024.12006","article-title":"An interesting cause of wrist drop: The crow position in yoga and hereditary neuropathy with liability to pressure palsies","volume":"70","author":"Isik","year":"2024","journal-title":"Turk. J. Phys. Med. Rehabil."},{"key":"ref_53","first-page":"e76077","article-title":"Charcot-Marie-Tooth Disease Presenting in the Postpartum Period: A Case Report","volume":"16","author":"Ismail","year":"2024","journal-title":"Cureus"},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"3617","DOI":"10.1007\/s00415-020-10052-w","article-title":"Yield of the PMP22 deletion analysis in patients with compression neuropathies","volume":"267","author":"Ivanovic","year":"2020","journal-title":"J. Neurol."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"275","DOI":"10.1007\/s10048-022-00698-1","article-title":"Expanding the phenotypic spectrum of Dejerine-Sottas syndrome caused by the trembler mutation","volume":"23","author":"Jaffry","year":"2022","journal-title":"Neurogenetics"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"905","DOI":"10.1002\/mus.24713","article-title":"Coexistence of a T118M PMP22 missense mutation and chromosome 17 (17p11.2-p12) deletion","volume":"52","author":"Jerath","year":"2015","journal-title":"Muscle Nerve"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1016\/j.nmd.2019.03.010","article-title":"PMP22-related disease: A novel splice site acceptor variant and intrafamilial phenotype variability","volume":"29","author":"Kawarai","year":"2019","journal-title":"Neuromuscul. Disord."},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.4103\/0028-3886.236961","article-title":"Magnetic resonance imaging neurography depicting radiological anticipation in a family with PMP22 duplication","volume":"66","author":"Khadilkar","year":"2018","journal-title":"Neurol. India"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"893","DOI":"10.4103\/neuroindia.NI_783_16","article-title":"A longitudinal clinicopathological study of two unrelated patients with Charcot-Marie-Tooth disease type 1E","volume":"65","author":"Kim","year":"2017","journal-title":"Neurol. India"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"352","DOI":"10.1136\/jramc-2015-000520","article-title":"Proximal arm weakness is the most common presentation in young Korean soldiers diagnosed as having hereditary neuropathy with liability to pressure palsy (HNPP)","volume":"162","author":"Kim","year":"2016","journal-title":"J. R. Army Med. Corps"},{"key":"ref_61","doi-asserted-by":"crossref","first-page":"27655","DOI":"10.18632\/oncotarget.8377","article-title":"Improving molecular diagnosis of Chinese patients with Charcot-Marie-Tooth by targeted next-generation sequencing and functional analysis","volume":"7","author":"Li","year":"2016","journal-title":"Oncotarget"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"1779","DOI":"10.4103\/0366-6999.211539","article-title":"A Novel Missense Mutation in Peripheral Myelin Protein-22 Causes Charcot-Marie-Tooth Disease","volume":"130","author":"Li","year":"2017","journal-title":"Chin. Med. J."},{"key":"ref_63","doi-asserted-by":"crossref","unstructured":"Liao, Y.C., Tsai, P.C., Lin, T.S., Hsiao, C.T., Chao, N.C., Lin, K.P., and Lee, Y.C. (2017). Clinical and Molecular Characterization of PMP22 point mutations in Taiwanese patients with Inherited Neuropathy. Sci. Rep., 7.","DOI":"10.1038\/s41598-017-14771-5"},{"key":"ref_64","doi-asserted-by":"crossref","unstructured":"Liu, X., Duan, X., Zhang, Y., and Fan, D. (2020). Clinical and Genetic Diversity of PMP22 Mutations in a Large Cohort of Chinese Patients with Charcot-Marie-Tooth Disease. Front. Neurol., 11.","DOI":"10.3389\/fneur.2020.00630"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"529","DOI":"10.1016\/j.otsr.2016.02.013","article-title":"Fibular nerve palsy after hip replacement: Not only surgeon responsibility. Hereditary neuropathy with liability to pressure palsies (HNPP) a rare cause of nerve liability","volume":"102","author":"Logroscino","year":"2016","journal-title":"Orthop. Traumatol. Surg. Res."},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1007\/s10072-017-2905-x","article-title":"Charcot-Marie-Tooth disease: Genetic subtypes in the Sardinian population","volume":"38","author":"Lorefice","year":"2017","journal-title":"Neurol. Sci."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"6677","DOI":"10.4081\/ni.2016.6677","article-title":"Hereditary Neuropathy with Liability to Pressure Palsies: A Single-Center Experience in Southern Brazil","volume":"8","author":"Lorenzoni","year":"2016","journal-title":"Neurol. Int."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"131","DOI":"10.1111\/jns.12299","article-title":"Genetic epidemiology, demographic, and clinical characteristics of Charcot-Marie-tooth disease in the island of Gran Canaria (Spain)","volume":"24","author":"Lousa","year":"2019","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_69","doi-asserted-by":"crossref","unstructured":"Ma, Y., Duan, X., Liu, X., and Fan, D. (2023). Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients. Front. Genet., 14.","DOI":"10.3389\/fgene.2023.1188361"},{"key":"ref_70","first-page":"301","article-title":"Clinical and Genetic Aspects of Childhood-Onset Demyelinating Charcot-Marie-Tooth\u2019s Disease in Brazil","volume":"12","author":"Machado","year":"2022","journal-title":"J. Pediatr. Genet."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1016\/j.jocn.2016.12.005","article-title":"A case of charcot-marie-Tooth (CMT) disease with hypercholesterolaemia and statin side-effects: A case report and literature review","volume":"38","author":"Maghsoodi","year":"2017","journal-title":"J. Clin. Neurosci."},{"key":"ref_72","doi-asserted-by":"crossref","unstructured":"Mahungu, A.C., Steyn, E., Floudiotis, N., Wilson, L.A., Vandrovcova, J., Reilly, M.M., Record, C.J., Benatar, M., Wu, G., and Raga, S. (2023). The mutational profile in a South African cohort with inherited neuropathies and spastic paraplegia. Front. Neurol., 14.","DOI":"10.3389\/fneur.2023.1239725"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"1457","DOI":"10.1111\/dme.13701","article-title":"Peripheral neuropathy in diabetes: It\u2019s not always what it looks like","volume":"35","author":"Maltese","year":"2018","journal-title":"Diabet. Med."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"687","DOI":"10.1016\/j.mayocp.2015.12.019","article-title":"Thirty Years Later, Case Closed: A Case of PMP22 Triplication from Anticipation","volume":"91","author":"Klein","year":"2016","journal-title":"Mayo Clin. Proc."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1159\/000478860","article-title":"Molecular Epidemiology of Charcot-Marie-Tooth Disease in Northern Ostrobothnia, Finland: A Population-Based Study","volume":"49","author":"Marttila","year":"2017","journal-title":"Neuroepidemiology"},{"key":"ref_76","doi-asserted-by":"crossref","unstructured":"Matsuda, N., Ootsuki, K., Kobayashi, S., Nemoto, A., Kubo, H., Usami, S.I., and Kanani, K. (2021). A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy. BMC Neurol., 21.","DOI":"10.1186\/s12883-021-02256-y"},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"38","DOI":"10.1016\/j.nmd.2017.08.007","article-title":"Genotypic and phenotypic spectrum of the most common causative genes of Charcot-Marie-Tooth disease in Hungarian patients","volume":"28","author":"Milley","year":"2018","journal-title":"Neuromuscul. Disord."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"e95","DOI":"10.2106\/JBJS.CC.18.00132","article-title":"Hereditary Neuropathy with Liability to Pressure Palsies: A Rare Condition That Presents with Common Symptoms: A Case Report","volume":"8","author":"Mota","year":"2018","journal-title":"JBJS Case Connect."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"778","DOI":"10.1007\/s12031-020-01488-w","article-title":"PMP22 Gene-Associated Neuropathies: Phenotypic Spectrum in a Cohort from India","volume":"70","author":"Nagappa","year":"2020","journal-title":"J. Mol. Neurosci."},{"key":"ref_80","doi-asserted-by":"crossref","unstructured":"Nan, H., Wu, Y., Cui, S., Sun, H., Wang, J., Li, Y., Meng, L., Nagasaka, T., and Wu, L. (2022). Coexistence of Charcot-Marie-Tooth 1A and nondystrophic myotonia due to PMP22 duplication and SCN4A pathogenic variants: A case report. BMC Neurol., 22.","DOI":"10.1186\/s12883-021-02538-5"},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"1666","DOI":"10.3390\/neurolint16060121","article-title":"Co-Existent Central and Peripheral Demyelination: Related or Coincidental?","volume":"16","author":"Jacob","year":"2024","journal-title":"Neurol. Int."},{"key":"ref_82","first-page":"22143602251313722","article-title":"Genetic landscape of Charcot-Marie-Tooth disease in Vietnam: A prospective multicenter study","volume":"12","author":"Nghia","year":"2025","journal-title":"J. Neuromuscul. Dis."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"e2744","DOI":"10.1002\/brb3.2744","article-title":"Genotype-phenotype characteristics of Vietnamese patients diagnosed with Charcot-Marie-Tooth disease","volume":"12","author":"Do","year":"2022","journal-title":"Brain Behav."},{"key":"ref_84","first-page":"e55948","article-title":"Recurrent Ipsilateral C5 Nerve Palsy Associated with Hereditary Neuropathy with Liability to Pressure Palsy","volume":"16","author":"Nozue","year":"2024","journal-title":"Cureus"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"185","DOI":"10.1111\/cge.13793","article-title":"Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies","volume":"98","author":"Padilha","year":"2020","journal-title":"Clin. Genet."},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1007\/s10048-023-00729-5","article-title":"Rare PMP22 variants in mild to severe neuropathy uncorrelated to plasma GDF15 or neurofilament light","volume":"24","author":"Palu","year":"2023","journal-title":"Neurogenetics"},{"key":"ref_87","first-page":"204","article-title":"Multiple tendon transfer for a case of radial nerve palsy in hereditary neuropathy with liability to pressure palsy","volume":"85","author":"Palumbo","year":"2023","journal-title":"Nagoya J. Med. Sci."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"e140","DOI":"10.1097\/PHM.0000000000000515","article-title":"Compression of Root Level in a Patient with Hereditary Neuropathy with Liability to Pressure Palsy Diagnosed by Magnetic Resonance Imaging","volume":"95","author":"Park","year":"2016","journal-title":"Am. J. Phys. Med. Rehabil."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"2461","DOI":"10.1111\/ene.15860","article-title":"Clinical spectrum and frequency of Charcot-Marie-Tooth disease in Italy: Data from the National CMT Registry","volume":"30","author":"Pisciotta","year":"2023","journal-title":"Eur. J. Neurol."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"15","DOI":"10.1002\/acn3.50953","article-title":"Length-dependent MRI of hereditary neuropathy with liability to pressure palsies","volume":"7","author":"Pridmore","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_91","doi-asserted-by":"crossref","first-page":"3144","DOI":"10.1093\/brain\/awae064","article-title":"Whole genome sequencing increases the diagnostic rate in Charcot-Marie-Tooth disease","volume":"147","author":"Record","year":"2024","journal-title":"Brain"},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"217","DOI":"10.1002\/mus.25666","article-title":"Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria","volume":"57","author":"Jousserand","year":"2018","journal-title":"Muscle Nerve"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"34","DOI":"10.1111\/cge.12594","article-title":"Diagnostic algorithms in Charcot-Marie-Tooth neuropathies: Experiences from a German genetic laboratory on the basis of 1206 index patients","volume":"89","author":"Senderek","year":"2016","journal-title":"Clin. Genet."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"e367","DOI":"10.1097\/WNO.0000000000001233","article-title":"Asymptomatic Retinal Vein Occlusion in a 13-Year-Old with Heterozygous Deletion of the PMP22 Gene and a Diagnosis of Hereditary Neuropathy with Liability to Pressure Palsies","volume":"42","author":"Saffra","year":"2022","journal-title":"J. Neuroophthalmol."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"800","DOI":"10.1016\/j.nmd.2015.07.015","article-title":"Spinal and bulbar muscular atrophy and Charcot-Marie-Tooth type 1A: Co-existence of two rare neuromuscular genetic diseases in the same patient","volume":"25","author":"Sagnelli","year":"2015","journal-title":"Neuromuscul. Disord."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"123","DOI":"10.1111\/ncn3.12214","article-title":"Elderly-onset case of hereditary neuropathy with liability to pressure palsies: A case report","volume":"6","author":"Sato","year":"2018","journal-title":"Neurol. Clin. Neurosci."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"65","DOI":"10.1097\/MCD.0000000000000305","article-title":"A case report of trisomy 17 mosaicism: PMP22 gene duplication as a result of trisomy 17 associated with Charcot-Marie-Tooth disease","volume":"29","author":"Cassidy","year":"2020","journal-title":"Clin. Dysmorphol."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"3157","DOI":"10.2169\/internalmedicine.3040-19","article-title":"Hidden Charcot-Marie-Tooth 1A as Revealed by Peripheral Nerve Imaging","volume":"58","author":"Shibuya","year":"2019","journal-title":"Intern. Med."},{"key":"ref_99","first-page":"e32296","article-title":"Heterogeneous Presentation of Hereditary Neuropathy with Liability to Pressure Palsies: Clinical and Electrodiagnostic Findings in Three Patients","volume":"14","author":"Shields","year":"2022","journal-title":"Cureus"},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"111","DOI":"10.1159\/000522574","article-title":"Nerve Ultrasound Findings before and after Surgery in a Patient with Charcot-Marie-Tooth Disease Type 1A and Comorbid Carpal Tunnel Syndrome","volume":"14","author":"Shields","year":"2022","journal-title":"Case Rep. Neurol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"192","DOI":"10.1111\/ncn3.12071","article-title":"Coexistence of Charcot\u2013Marie\u2013Tooth disease type 1A and chronic inflammatory demyelinating polyradiculoneuropathy with conduction blocks","volume":"4","author":"Shimizu","year":"2016","journal-title":"Neurol. Clin. Neurosci."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"199","DOI":"10.1016\/j.ejmhg.2014.12.002","article-title":"Co-occurrence of Xp21 microduplication encompassing the DMD locus in conjunction with 17p12\/PMP22 microduplication in a female with Charcot\u2013Marie\u2013Tooth disease type 1A","volume":"16","author":"Sidhu","year":"2015","journal-title":"Egypt. J. Med. Hum. Genet."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.4103\/1673-5374.167771","article-title":"Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family","volume":"10","author":"Sun","year":"2015","journal-title":"Neural Regen. Res."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/jns.12195","article-title":"Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients","volume":"22","author":"Sun","year":"2017","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"119","DOI":"10.1097\/CND.0000000000000152","article-title":"Electrodiagnostic Characterization of Hereditary Neuropathy with Liability to Pressure Palsies","volume":"18","author":"Takahashi","year":"2017","journal-title":"J. Clin. Neuromuscul. Dis."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"315","DOI":"10.2169\/internalmedicine.1883-23","article-title":"An Elderly Woman with Complaints of Pain and Hearing Loss, Diagnosed with CMT1A with PMP22 Duplication","volume":"63","author":"Takegami","year":"2024","journal-title":"Intern. Med."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"100200","DOI":"10.1016\/j.ensci.2019.100200","article-title":"Case series: Childhood Charcot-Marie-Tooth: Predominance of axonal subtype","volume":"16","author":"Thongsing","year":"2019","journal-title":"eNeurologicalSci"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"19","DOI":"10.1111\/ncn3.12024","article-title":"Case of hereditary neuropathy with liability to pressure palsies presenting progressive muscular atrophy with lower motor neuron degeneration in the spinal cord and the brainstem","volume":"4","author":"Tohge","year":"2015","journal-title":"Neurol. Clin. Neurosci."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"e16199","DOI":"10.1111\/ene.16199","article-title":"Intermediate conduction velocity in two cases of Charcot-Marie-Tooth disease type 1A","volume":"31","author":"Tomaselli","year":"2024","journal-title":"Eur. J. Neurol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"290","DOI":"10.1111\/jns.12458","article-title":"Charcot-Marie-Tooth disease: Genetic profile of patients from a large Brazilian neuromuscular reference center","volume":"26","author":"Santos","year":"2021","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_111","first-page":"44","article-title":"Overlap phenotype between CMT1A and hereditary neuropathy with liability to pressure palsies caused by the novel small in-frame deletion c.407_418del12 in PMP22 gene","volume":"46","author":"Vill","year":"2015","journal-title":"Neuropediatrics"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"2648","DOI":"10.1007\/s00415-020-09899-w","article-title":"Screening for genetic mutations in patients with neuropathy without definite etiology is useful","volume":"267","author":"Vogt","year":"2020","journal-title":"J. Neurol."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"236","DOI":"10.1002\/acn3.395","article-title":"PMP22 exon 4 deletion causes ER retention of PMP22 and a gain-of-function allele in CMT1E","volume":"4","author":"Wang","year":"2017","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"ref_114","doi-asserted-by":"crossref","unstructured":"Wang, J., Wang, C., Chen, Y., Qi, S., and Wang, M. (2025). A case report of a MODY6 patient coexistence with Charcot-Marie-Toothe 1A syndrome. Front. Endocrinol., 16.","DOI":"10.3389\/fendo.2025.1502783"},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"263","DOI":"10.1016\/j.cca.2015.10.007","article-title":"Clinical and genetic spectra in a series of Chinese patients with Charcot-Marie-Tooth disease","volume":"451","author":"Wang","year":"2015","journal-title":"Clin. Chim. Acta"},{"key":"ref_116","doi-asserted-by":"crossref","unstructured":"Ward, K.S., Ptak, C.P., Pashkova, N., Grider, T., Peterson, T.A., Pareyson, D., Pisciotta, C., Saveri, P., Moroni, I., and Laura, M. (2025). Charcot-Marie-Tooth disease type 1E: Clinical natural history and molecular impact of PMP22 variants. Brain, awaf219.","DOI":"10.1101\/2025.05.01.25326605"},{"key":"ref_117","doi-asserted-by":"crossref","first-page":"E108","DOI":"10.1002\/mus.25985","article-title":"Davidenkow syndrome: A phenotypic variant of hereditary neuropathy with liability to pressure palsies","volume":"57","author":"Wong","year":"2018","journal-title":"Muscle Nerve"},{"key":"ref_118","doi-asserted-by":"crossref","first-page":"441","DOI":"10.1111\/neup.12604","article-title":"Homozygous splice-site mutation c.78 +\u20095G>A in PMP22 causes congenital hypomyelinating neuropathy","volume":"39","author":"Wu","year":"2019","journal-title":"Neuropathology"},{"key":"ref_119","doi-asserted-by":"crossref","first-page":"3774","DOI":"10.1111\/ene.15024","article-title":"Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China","volume":"28","author":"Xie","year":"2021","journal-title":"Eur. J. Neurol."},{"key":"ref_120","doi-asserted-by":"crossref","first-page":"177","DOI":"10.4274\/tnd.70446","article-title":"The Neurophysiologic Frequency of Hereditary Neuropathy with Liability to Pressure Palsy in Entrapment Neuropathies","volume":"22","author":"Yildiz","year":"2016","journal-title":"Turk. J. Neurol."},{"key":"ref_121","doi-asserted-by":"crossref","first-page":"195","DOI":"10.1136\/jnnp-2018-318839","article-title":"Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan","volume":"90","author":"Yoshimura","year":"2019","journal-title":"J. Neurol. Neurosurg. Psychiatry"},{"key":"ref_122","doi-asserted-by":"crossref","first-page":"1161","DOI":"10.1007\/s00439-016-1703-5","article-title":"Nonrecurrent PMP22-RAI1 contiguous gene deletions arise from replication-based mechanisms and result in Smith-Magenis syndrome with evident peripheral neuropathy","volume":"135","author":"Yuan","year":"2016","journal-title":"Hum. Genet."},{"key":"ref_123","doi-asserted-by":"crossref","first-page":"691","DOI":"10.1016\/j.ajhg.2015.10.003","article-title":"Nonrecurrent 17p11.2p12 Rearrangement Events that Result in Two Concomitant Genomic Disorders: The PMP22-RAI1 Contiguous Gene Duplication Syndrome","volume":"97","author":"Yuan","year":"2015","journal-title":"Am. J. Hum. Genet."},{"key":"ref_124","doi-asserted-by":"crossref","first-page":"303","DOI":"10.1111\/jns.12386","article-title":"A novel homozygous variant extending the peripheral myelin protein 22 by 9 amino acids causes early-onset Charcot-Marie-Tooth disease with predominant severe sensory ataxia","volume":"25","author":"Zambon","year":"2020","journal-title":"J. Peripher. Nerv. Syst."},{"key":"ref_125","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1002\/mus.24550","article-title":"PMP22-Related neuropathies and other clinical manifestations in Chinese han patients with charcot-marie-tooth disease type 1","volume":"52","author":"Zhan","year":"2015","journal-title":"Muscle Nerve"},{"key":"ref_126","doi-asserted-by":"crossref","first-page":"179","DOI":"10.1002\/jcu.23834","article-title":"Ultrasonographic manifestations of Charcot-Marie-Tooth disease due to a mutation in the PMP22 gene: A case image","volume":"53","author":"Zhang","year":"2025","journal-title":"J. Clin. Ultrasound"},{"key":"ref_127","doi-asserted-by":"crossref","first-page":"133","DOI":"10.54029\/2024xka","article-title":"Clinical, neurophysiological and genetic characteristics of Charcot-Marie-Tooth from a research center in northern China","volume":"29","author":"Zhang","year":"2024","journal-title":"Neurol. Asia"},{"key":"ref_128","doi-asserted-by":"crossref","first-page":"e43192","DOI":"10.1097\/MD.0000000000043192","article-title":"Hereditary neuropathy with liability to pressure palsies with recurrent facial paralysis as main clinical manifestation in a Chinese patient: A case report","volume":"104","author":"Zhao","year":"2025","journal-title":"Medicine"},{"key":"ref_129","first-page":"265","article-title":"Narcolepsy with cataplexy in a child with Charcot-Marie-Tooth disease. Case Report","volume":"37","author":"Zheng","year":"2016","journal-title":"Neuro Endocrinol. Lett."},{"key":"ref_130","doi-asserted-by":"crossref","first-page":"e30768","DOI":"10.1097\/MD.0000000000030768","article-title":"Hereditary neuropathy with liability to pressure palsies misdiagnosed as Guillain-Barr\u00e9 Syndrome: A case report","volume":"101","author":"Zhu","year":"2022","journal-title":"Medicine"},{"key":"ref_131","doi-asserted-by":"crossref","first-page":"e18340","DOI":"10.1016\/j.heliyon.2023.e18340","article-title":"Tibial neuropathy, a rare manifestation of hereditary neuropathy with liability to pressure palsy: A case report","volume":"9","author":"Zhu","year":"2023","journal-title":"Heliyon"},{"key":"ref_132","doi-asserted-by":"crossref","first-page":"e947400","DOI":"10.12659\/AJCR.947400","article-title":"Two Cases of Charcot-Marie-Tooth Disease Diagnosed in a 53-Year-Old Mother and a 24-Year-Old Daughter","volume":"26","author":"Zhu","year":"2025","journal-title":"Am. J. Case Rep."},{"key":"ref_133","first-page":"2618071","article-title":"T118M Variant of PMP22 Gene Presents with Painful Peripheral Neuropathy and Varying Charcot-Marie-Tooth Features: A Case Series and Review of the Literature","volume":"2018","author":"Ho","year":"2018","journal-title":"Case Rep. Genet."},{"key":"ref_134","doi-asserted-by":"crossref","first-page":"e6922","DOI":"10.1097\/MD.0000000000006922","article-title":"A case report of hereditary neuropathy with liability to pressure palsies accompanied by type 2 diabetes mellitus and psoriasis","volume":"96","author":"Li","year":"2017","journal-title":"Medicine"},{"key":"ref_135","doi-asserted-by":"crossref","first-page":"1429","DOI":"10.1007\/s10072-012-1258-8","article-title":"Electrophysiological comparison between males and females in HNPP","volume":"34","author":"Manganelli","year":"2013","journal-title":"Neurol. Sci."},{"key":"ref_136","doi-asserted-by":"crossref","first-page":"1533","DOI":"10.1038\/nm957","article-title":"Therapeutic administration of progesterone antagonist in a model of Charcot-Marie-Tooth disease (CMT-1A)","volume":"9","author":"Sereda","year":"2003","journal-title":"Nat. Med."},{"key":"ref_137","doi-asserted-by":"crossref","first-page":"600","DOI":"10.1523\/JNEUROSCI.4264-09.2010","article-title":"Conduction block in PMP22 deficiency","volume":"30","author":"Bai","year":"2010","journal-title":"J. Neurosci."},{"key":"ref_138","doi-asserted-by":"crossref","first-page":"208","DOI":"10.1007\/s11420-007-9056-1","article-title":"Hereditary neuropathy with liability to pressure palsies: Case report and discussion","volume":"3","author":"Grossman","year":"2007","journal-title":"HSS J."},{"key":"ref_139","doi-asserted-by":"crossref","first-page":"135595","DOI":"10.1016\/j.neulet.2020.135595","article-title":"New evidence for secondary axonal degeneration in demyelinating neuropathies","volume":"744","author":"Moss","year":"2021","journal-title":"Neurosci. Lett."},{"key":"ref_140","doi-asserted-by":"crossref","first-page":"681","DOI":"10.1212\/01.WNL.0000171978.70849.c5","article-title":"NT-3 promotes nerve regeneration and sensory improvement in CMT1A mouse models and in patients","volume":"65","author":"Sahenk","year":"2005","journal-title":"Neurology"},{"key":"ref_141","doi-asserted-by":"crossref","first-page":"703","DOI":"10.1016\/j.mcn.2004.11.016","article-title":"Experimental Charcot-Marie-Tooth type 1A: A cDNA microarrays analysis","volume":"28","author":"Vigo","year":"2005","journal-title":"Mol. Cell Neurosci."},{"key":"ref_142","doi-asserted-by":"crossref","first-page":"bcr-2016","DOI":"10.1136\/bcr-2016-218981","article-title":"Severe vincristine-induced polyneuropathy in a teenager with anaplastic medulloblastoma and undiagnosed Charcot-Marie-Tooth disease","volume":"2017","author":"Aghajan","year":"2017","journal-title":"BMJ Case Rep."},{"key":"ref_143","doi-asserted-by":"crossref","first-page":"787","DOI":"10.1097\/MPH.0b013e3181b530ad","article-title":"Low dose vincristine-induced severe polyneuropathy in a Hodgkin lymphoma patient: A case report (vincristine-induced severe polyneuropathy)","volume":"31","author":"Cil","year":"2009","journal-title":"J. Pediatr. Hematol. Oncol."},{"key":"ref_144","doi-asserted-by":"crossref","first-page":"1356","DOI":"10.1002\/(SICI)1097-0142(19960401)77:7<1356::AID-CNCR20>3.0.CO;2-#","article-title":"Severe vincristine neuropathy in Charcot-Marie-Tooth disease type 1A","volume":"77","author":"Graf","year":"1996","journal-title":"Cancer"},{"key":"ref_145","doi-asserted-by":"crossref","first-page":"2324709618758349","DOI":"10.1177\/2324709618758349","article-title":"Unmasking a Case of Asymptomatic Charcot-Marie-Tooth Disease (CMT1A) with Vincristine","volume":"6","author":"Jariwal","year":"2018","journal-title":"J. Investig. Med. High Impact Case Rep."},{"key":"ref_146","doi-asserted-by":"crossref","first-page":"385","DOI":"10.1016\/0022-510X(80)90091-X","article-title":"Hereditary pressure-sensitive neuropathy","volume":"47","author":"Debruyne","year":"1980","journal-title":"J. Neurol. Sci."},{"key":"ref_147","doi-asserted-by":"crossref","first-page":"1470","DOI":"10.1212\/01.WNL.0000032505.45389.94","article-title":"Vassilopoulos D, Hereditary neuropathy with liability to pressure palsies emerging during vincristine treatment","volume":"59","author":"Kalfakis","year":"2002","journal-title":"Neurology"},{"key":"ref_148","doi-asserted-by":"crossref","first-page":"702","DOI":"10.1212\/WNL.51.3.702","article-title":"A novel PMP22 point mutation causing HNPP phenotype: Studies on nerve xenografts","volume":"51","author":"Sahenk","year":"1998","journal-title":"Neurology"},{"key":"ref_149","doi-asserted-by":"crossref","first-page":"313","DOI":"10.1016\/j.nmd.2004.01.007","article-title":"A novel stop codon mutation in the PMP22 gene associated with a variable phenotype","volume":"14","author":"Abe","year":"2004","journal-title":"Neuromuscul. Disord."},{"key":"ref_150","doi-asserted-by":"crossref","first-page":"1566","DOI":"10.1111\/ene.13079","article-title":"Nerve conduction velocity in CMT1A: What else can we tell?","volume":"23","author":"Manganelli","year":"2016","journal-title":"Eur. J. Neurol."},{"key":"ref_151","doi-asserted-by":"crossref","first-page":"41","DOI":"10.1007\/s00415-024-12839-7","article-title":"Literature review of clinical analysis of hereditary neuropathy with liability to pressure palsies","volume":"272","author":"Chen","year":"2024","journal-title":"J. Neurol."},{"key":"ref_152","doi-asserted-by":"crossref","first-page":"1265","DOI":"10.1589\/jpts.25.1265","article-title":"Electrophysiological evaluation of chronic inflammatory demyelinating polyneuropathy and charcot-marie-tooth type 1: Dispersion and correlation analysis","volume":"25","author":"Kang","year":"2013","journal-title":"J. Phys. Ther. Sci."},{"key":"ref_153","doi-asserted-by":"crossref","first-page":"586","DOI":"10.1002\/mus.880130705","article-title":"The electrophysiologic profile of Dejerine-Sottas disease (HMSN III)","volume":"13","author":"Benstead","year":"1990","journal-title":"Muscle Nerve"},{"key":"ref_154","doi-asserted-by":"crossref","first-page":"341","DOI":"10.1046\/j.1469-7580.2002.00043.x","article-title":"Dejerine-Sottas syndrome grown to maturity: Overview of genetic and morphological heterogeneity and follow-up of 25 patients","volume":"200","year":"2002","journal-title":"J. Anat."},{"key":"ref_155","doi-asserted-by":"crossref","first-page":"269","DOI":"10.1038\/ng1193-269","article-title":"Dejerine-Sottas syndrome associated with point mutation in the peripheral myelin protein 22 (PMP22) gene","volume":"5","author":"Roa","year":"1993","journal-title":"Nat. Genet."}],"container-title":["Genes"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/11\/1279\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,29]],"date-time":"2025-10-29T17:49:26Z","timestamp":1761760166000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2073-4425\/16\/11\/1279"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,10,29]]},"references-count":155,"journal-issue":{"issue":"11","published-online":{"date-parts":[[2025,11]]}},"alternative-id":["genes16111279"],"URL":"https:\/\/doi.org\/10.3390\/genes16111279","relation":{},"ISSN":["2073-4425"],"issn-type":[{"value":"2073-4425","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,10,29]]}}}