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This case study is aimed at elucidating a novel genetic association in MMTAH by reporting a patient with pathognomonic features, including chronic limited mouth opening, bilateral coronoid process elongation, tendon hyperplasia in the masseter and temporalis muscles, and concomitant fatty degeneration. Crucially, whole\u2010exome sequencing of peripheral blood identified a heterozygous SYNE1 missense mutation (NM_182961.4:c.26359A&gt;G, p.Met8787Val) in the proband. This variant, located in Exon 146 (Chr6:152122471), is an unreported variant at this locus and predicted pathogenic by in silico tools, suggesting its potential role in MMTAH pathogenesis. The study highlights the importance of genetic screening in atypical presentations to refine diagnosis and understand disease etiology.<\/jats:p>","DOI":"10.1155\/crid\/5591642","type":"journal-article","created":{"date-parts":[[2025,6,14]],"date-time":"2025-06-14T02:50:08Z","timestamp":1749869408000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Coronoidectomy for Alleviating Restricted Mouth Opening in Masticatory Muscle Tendon\u2010Aponeurosis Hyperplasia: Integration With Genetic Mutation Analysis"],"prefix":"10.1155","volume":"2025","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-5258-9046","authenticated-orcid":false,"given":"Hongrong","family":"Zhang","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-7022-3897","authenticated-orcid":false,"given":"Weihong","family":"Wang","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Liang","family":"Wen","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"311","published-online":{"date-parts":[[2025,6,13]]},"reference":[{"key":"e_1_2_10_1_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2009.07.002"},{"key":"e_1_2_10_2_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jdsr.2015.11.001"},{"key":"e_1_2_10_3_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2013.06.004"},{"key":"e_1_2_10_4_2","doi-asserted-by":"publisher","DOI":"10.21873\/invivo.12738"},{"key":"e_1_2_10_5_2","doi-asserted-by":"publisher","DOI":"10.1111\/odi.14400"},{"key":"e_1_2_10_6_2","first-page":"28","article-title":"New Concept of Limited Mouth Opening Associated With Square Mandible: Diagnosis and Treatment for Masticatory Muscle Tendon-Aponeurosis Hyperplasia","volume":"21","author":"Kakudo K.","year":"2009","journal-title":"Japanese Society for Temporomandibular Joint"},{"key":"e_1_2_10_7_2","doi-asserted-by":"publisher","DOI":"10.1111\/odi.12140"},{"key":"e_1_2_10_8_2","doi-asserted-by":"publisher","DOI":"10.1080\/08869634.2017.1283788"},{"key":"e_1_2_10_9_2","doi-asserted-by":"publisher","DOI":"10.1054\/bjom.1999.0159"},{"key":"e_1_2_10_10_2","doi-asserted-by":"publisher","DOI":"10.2478\/ams-2013-0005"},{"key":"e_1_2_10_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijom.2016.04.018"},{"key":"e_1_2_10_12_2","doi-asserted-by":"crossref","first-page":"113","DOI":"10.1080\/08869634.2000.11746122","article-title":"Prolonged Mandibular Hypomobility Patient With a \"Square Mandible\" Configuration With Coronoid Process and Angle Hyperplasia","volume":"18","author":"Murakami K.","year":"2000","journal-title":"Cranio : The Journal of Craniomandibular Practice"},{"key":"e_1_2_10_13_2","doi-asserted-by":"publisher","DOI":"10.1042\/BST20170149"},{"key":"e_1_2_10_14_2","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddm238"},{"key":"e_1_2_10_15_2","doi-asserted-by":"publisher","DOI":"10.1042\/BST20110658"}],"container-title":["Case Reports in Dentistry"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crid\/5591642","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/full-xml\/10.1155\/crid\/5591642","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/pdf\/10.1155\/crid\/5591642","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,3,8]],"date-time":"2026-03-08T17:39:29Z","timestamp":1772991569000},"score":1,"resource":{"primary":{"URL":"https:\/\/onlinelibrary.wiley.com\/doi\/10.1155\/crid\/5591642"}},"subtitle":[],"editor":[{"given":"Hannah","family":"Wesley","sequence":"additional","affiliation":[],"role":[{"role":"editor","vocabulary":"crossref"}]}],"short-title":[],"issued":{"date-parts":[[2025,1]]},"references-count":15,"journal-issue":{"issue":"1","published-print":{"date-parts":[[2025,1]]}},"alternative-id":["10.1155\/crid\/5591642"],"URL":"https:\/\/doi.org\/10.1155\/crid\/5591642","archive":["Portico"],"relation":{},"ISSN":["2090-6447","2090-6455"],"issn-type":[{"value":"2090-6447","type":"print"},{"value":"2090-6455","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,1]]},"assertion":[{"value":"2023-08-28","order":0,"name":"received","label":"Received","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-05-22","order":2,"name":"accepted","label":"Accepted","group":{"name":"publication_history","label":"Publication History"}},{"value":"2025-06-13","order":3,"name":"published","label":"Published","group":{"name":"publication_history","label":"Publication History"}}],"article-number":"5591642"}}