{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,13]],"date-time":"2026-10-13T06:13:04Z","timestamp":1791871984626,"version":"4.3.4"},"reference-count":49,"publisher":"Wiley","issue":"3","license":[{"start":{"date-parts":[[2023,1,23]],"date-time":"2023-01-23T00:00:00Z","timestamp":1674432000000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"funder":[{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81974193"],"award-info":[{"award-number":["81974193"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100001809","name":"National Natural Science Foundation of China","doi-asserted-by":"publisher","award":["81701242"],"award-info":[{"award-number":["81701242"]}],"id":[{"id":"10.13039\/501100001809","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Ann Clin Transl Neurol"],"published-print":{"date-parts":[[2023,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Objective<\/jats:title><jats:p>Oculopharyngeal muscular dystrophy (OPMD) is a late\u2010onset inherited neuromuscular disorder, with progressive ptosis and dysphagia as common manifestations. To date, OPMD has rarely been reported among East Asians. The present study summarizes the phenotypic and genotypic features of Chinese patients with OPMD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>Twenty\u2010one patients with molecularly confirmed OPMD from 9 unrelated families were identified by direct sequencing of the polyadenlyate binding protein nuclear\u20101 (<jats:italic>PABPN1<\/jats:italic>) gene. Immunofluorescence staining of muscle biopsies was conducted to identify the components of protein degradation pathways involved in OPMD.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>In our cohort, the genetically confirmed OPMD group had a mean age at onset of 50.6\u2009\u00b1\u20094.2\u2009years (range 45\u201360\u2009years). Ptosis (42.9%) was the most common initial symptom; patients with ptosis as the first symptom subsequently developed dysphagia within a median time of 5.5\u2009years (range 1\u201319\u2009years). Evidence of external ophthalmoplegia was found in 38.1% of patients. A total of 33.3% of the patients developed muscle weakness at a median age at onset of 66\u2009years (range 50\u201370\u2009years), with neck flexor involvement in all patients. Five genotypes were observed in our cohort, including classical (GCG)9\u201311 repeats in 7 families and non\u2010GCG elongations with additional GCA expansions in 2 families. OPMD muscle biopsies revealed rimmed vacuoles and intranuclear filamentous inclusions. The PABPN1 protein showed substantial accumulation in the nuclei of muscle fiber aggregates and closely colocalized with p62, LC3B and FK2.<\/jats:p><\/jats:sec><jats:sec><jats:title>Interpretation<\/jats:title><jats:p>Our findings indicate wide genetic heterogeneity in OPMD in the Chinese population and demonstrate abnormalities in protein degradation pathways in this disease.<\/jats:p><\/jats:sec>","DOI":"10.1002\/acn3.51733","type":"journal-article","created":{"date-parts":[[2023,1,24]],"date-time":"2023-01-24T06:11:58Z","timestamp":1674540718000},"page":"426-439","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":7,"title":["The phenotypic and genotypic features of Chinese patients with oculopharyngeal muscular dystrophy"],"prefix":"10.1002","volume":"10","author":[{"given":"Feng","family":"Lin","sequence":"first","affiliation":[{"name":"Department of Neurology and Institute of Neurology, First Affiliated Hospital Fujian 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