{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T11:06:42Z","timestamp":1789211202990,"version":"build-2803163510"},"reference-count":33,"publisher":"Wiley","issue":"1","license":[{"start":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T00:00:00Z","timestamp":1789171200000},"content-version":"vor","delay-in-days":254,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"},{"start":{"date-parts":[[2026,1,1]],"date-time":"2026-01-01T00:00:00Z","timestamp":1767225600000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Case Reports in Genetics"],"published-print":{"date-parts":[[2026,1]]},"abstract":"<jats:p>\n                    Charcot\u2013Marie\u2013Tooth (CMT) disease is the collective term for the most common inherited peripheral neuropathies, affecting both motor and sensory nerves. A typical CMT patient presents with slowly progressive distal muscle weakness and atrophy that primarily involves the small foot muscles, peroneal muscles, and, often later, the muscles of the hands and forearms. Foot deformities, most commonly pes cavus and claw toes, are common and can lead to gait impairments. In this paper, we report a patient with an intermediate CMT (CMT\u2010Int) type carrying a novel pathogenic variant in the\n                    <jats:italic>MPZ<\/jats:italic>\n                    gene combined with type 2 diabetes. The patient\u2019s initial symptoms included a gradual onset of muscle wasting, weakness, and sensory impairment in the lower limbs. Electrophysiological findings suggested widespread peripheral nerve damage affecting both sensory and motor fibers, with a predominant demyelinating pattern accompanied by axonal damage. Genetic testing identified a previously unreported heterozygous mutation in the\n                    <jats:italic>MPZ<\/jats:italic>\n                    gene, specifically c.548G\u2009&gt;\u2009A, p.Trp183\u2217. This alteration results in the replacement of the 183rd amino acid (tryptophan) by a stop codon. This premature stop codon is predicted to escape nonsense\u2010mediated mRNA decay, resulting in a C\u2010terminally truncated protein that may exert a dominant\u2010negative effect. Although a different variant affecting the same codon (c.549G\u2009&gt;\u2009A, p.Trp183\u2217, VCV000917145.1) has been documented, this particular pathogenic mutation has not been previously recorded. After being diagnosed with CMT, the patient developed type 2 diabetes following pancreatic cyst surgery in September 2022. The presence of both conditions exposed her peripheral nerves to congenital structural abnormalities combined with the metabolic consequences of chronic hyperglycemia and local ischemia, thereby exacerbating nerve injury.\n                  <\/jats:p>","DOI":"10.1155\/crig\/8838487","type":"journal-article","created":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T10:27:57Z","timestamp":1789208877000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["A Case Report of a Novel Myelin Protein Zero (\n                    <i>MPZ<\/i>\n                    ) Pathogenic Variant in Charcot\u2013Marie\u2013Tooth Disease Combined With Type 2 Diabetes"],"prefix":"10.1155","volume":"2026","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-2264-4793","authenticated-orcid":false,"given":"Lu","family":"Xia","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Liyan","family":"Cai","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0007-7479-9766","authenticated-orcid":false,"given":"Xin","family":"Chen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-1544-7382","authenticated-orcid":false,"given":"Kun","family":"Zhou","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0001-4249-1667","authenticated-orcid":false,"given":"Wei","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0003-6297-5137","authenticated-orcid":false,"given":"Yuanyuan","family":"Zhu","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0009-0006-9249-9022","authenticated-orcid":false,"given":"Shinian","family":"Yang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,9,12]]},"reference":[{"key":"e_1_2_13_1_2","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1111\/j.1399-0004.1974.tb00638.x","article-title":"Genetic and Clinical Aspects of Charcot-marie-tooth\u2019s Disease","volume":"6","author":"H S.","year":"1974","journal-title":"Clinical Genetics"},{"key":"e_1_2_13_2_2","first-page":"97","article-title":"Sur Une Forme Particuli\u00e8re D\u2019Atrophie Musculaire Progressive, Souvent Familiale D\u00e9butant Par Les Pieds Et Les Jambes Et Atteignant plus Tard Les Mains","volume":"6","author":"Cj-MaM P.","year":"1886","journal-title":"Revue de Medecine"},{"key":"e_1_2_13_3_2","doi-asserted-by":"crossref","first-page":"1629","DOI":"10.1007\/s00415-002-0946-3","article-title":"Clinical Features and Molecular Genetics of Hereditary Peripheral Neuropathies","volume":"249","author":"Gregor Kuhlenb\u00e4umer P. Y.","year":"2002","journal-title":"Journal of Neurology"},{"key":"e_1_2_13_4_2","article-title":"Charcot-Marie-Tooth Hereditary Neuropathy Overview Synonyms: Distal Hereditary Motor Neuropathy (Dhmn), Hereditary Motor\/Sensory Neuropathy (HMSN)","author":"Bird T. D.","year":"2025","journal-title":"GeneReviews[Internet]"},{"key":"e_1_2_13_5_2","doi-asserted-by":"publisher","DOI":"10.1038\/nrneurol.2013.179"},{"key":"e_1_2_13_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/s1474-4422(09)70110-3"},{"key":"e_1_2_13_7_2","doi-asserted-by":"publisher","DOI":"10.1016\/0166-2236(86)90076-7"},{"key":"e_1_2_13_8_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.67.2.174"},{"key":"e_1_2_13_9_2","doi-asserted-by":"publisher","DOI":"10.1002\/(sici)1097-4598(199911)22:11<1498::aid-mus4>3.0.co;2-9"},{"key":"e_1_2_13_10_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1750-3639.2000.tb00257.x"},{"key":"e_1_2_13_11_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awr184"},{"key":"e_1_2_13_12_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0896-6273(00)80177-4"},{"key":"e_1_2_13_13_2","doi-asserted-by":"crossref","first-page":"59","DOI":"10.1016\/j.nmd.2007.07.011","article-title":"Congenital Hypomyelinating Neuropathy, a Long Term follow-up Study in an Affected Family","volume":"18","author":"Smit L. S.","year":"2008","journal-title":"Neuromuscular Disorders"},{"key":"e_1_2_13_14_2","doi-asserted-by":"crossref","first-page":"770","DOI":"10.1002\/1531-8249(199911)46:5<770::AID-ANA13>3.0.CO;2-U","article-title":"The Roussy-Levy Family: from the Original Description to the Gene","volume":"46","author":"Plante-Bordeneuve V.","year":"1999","journal-title":"Annals of Neurology"},{"key":"e_1_2_13_15_2","doi-asserted-by":"publisher","DOI":"10.1016\/s0022-510x(97)00218-9"},{"key":"e_1_2_13_16_2","doi-asserted-by":"crossref","first-page":"841","DOI":"10.1086\/497541","article-title":"Curcumin Treatment Abrogates Endoplasmic Reticulum Retention and 508 Aggregation-Induced Apoptosis Associated with Neuropathy-Causing Myelin Protein 509 Zero\u2013Truncating Mutants","volume":"510","author":"Khajavi M.","year":"2005","journal-title":"The American Journal of Human Genetics"},{"key":"e_1_2_13_17_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng1322"},{"key":"e_1_2_13_18_2","first-page":"169","article-title":"Utility of Lumbosaeral Plexus MR Neurography in the Assessment of Charcot-Marie-Tooth disease 1A and Imaging Feature Analysis","volume":"43","author":"Sun X. Z. G.","year":"2024","journal-title":"Journal of Clinical Radiology"},{"key":"e_1_2_13_19_2","doi-asserted-by":"publisher","DOI":"10.21037\/qims-22-156"},{"key":"e_1_2_13_20_2","article-title":"A Rare Phenotype of Uncommon Charcot\u2013Marie\u2013Tooth Genotypes Complicated With Inflammation Evaluated by Genetics and Magnetic Resonance Neurography","volume":"13","author":"Su X. K. X.","year":"2022","journal-title":"Front Genet"},{"key":"e_1_2_13_21_2","doi-asserted-by":"publisher","DOI":"10.1111\/jdi.13574"},{"key":"e_1_2_13_22_2","doi-asserted-by":"publisher","DOI":"10.1378\/chest.91.4.567"},{"key":"e_1_2_13_23_2","doi-asserted-by":"publisher","DOI":"10.3803\/enm.2019.34.3.247"},{"key":"e_1_2_13_24_2","doi-asserted-by":"publisher","DOI":"10.1111\/jdi.13160"},{"key":"e_1_2_13_25_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neurol.2022.11.006"},{"key":"e_1_2_13_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/s1474-4422(10)70143-5"},{"key":"e_1_2_13_27_2","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1002\/mus.20959","article-title":"Benefits of Interval\u2010Training on Fatigue and Functional Capacities in Charcot\u2013Marie\u2013Tooth disease","volume":"37","author":"Mhandi L. E.","year":"2010","journal-title":"Muscle & Nerve"},{"key":"e_1_2_13_28_2","doi-asserted-by":"publisher","DOI":"10.3233\/prm-160359"},{"key":"e_1_2_13_29_2","doi-asserted-by":"publisher","DOI":"10.1111\/ene.14074"},{"key":"e_1_2_13_30_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.880060502"},{"key":"e_1_2_13_31_2","doi-asserted-by":"crossref","DOI":"10.1016\/j.apmr.2020.06.010","article-title":"The Effect of Proprioceptive Exercises on Balance and Physical Function in Institutionalized Older Adults: a Randomized Controlled Trial","volume":"101","author":"Espejo-Ant\u00fanez L.","year":"2020","journal-title":"Archives of Physical Medicine and Rehabilitation"},{"key":"e_1_2_13_32_2","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1097\/PHM.0b013e31821f6e32","article-title":"Outcome Measures and Rehabilitation Treatment in Patients Affected by charcot-marie-tooth Neuropathy A Pilot Study","volume":"90","author":"Maggi G.","year":"2011","journal-title":"American Journal of Physical Medicine and Rehabilitation\/Association of Academic Physiatrists"},{"key":"e_1_2_13_33_2","doi-asserted-by":"publisher","DOI":"10.3390\/muscles4040063"}],"container-title":["Case Reports in Genetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/8838487","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crig\/8838487","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crig\/8838487","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,9,12]],"date-time":"2026-09-12T10:28:00Z","timestamp":1789208880000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crig\/8838487"}},"subtitle":[],"editor":[{"given":"Neetu","family":"Rawal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"editor"}]}],"short-title":[],"issued":{"date-parts":[[2026,1]]},"references-count":33,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2026,1]]}},"alternative-id":["10.1155\/crig\/8838487"],"URL":"https:\/\/doi.org\/10.1155\/crig\/8838487","archive":["Portico"],"relation":{},"ISSN":["2090-6544","2090-6552"],"issn-type":[{"value":"2090-6544","type":"print"},{"value":"2090-6552","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,1]]},"assertion":[{"value":"2025-02-11","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-07-25","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2026-09-12","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"8838487"}}