{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,14]],"date-time":"2026-10-14T10:32:57Z","timestamp":1791973977237,"version":"4.4.0"},"reference-count":7,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2023,5,2]],"date-time":"2023-05-02T00:00:00Z","timestamp":1682985600000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JND"],"published-print":{"date-parts":[[2023,5,2]]},"abstract":"<jats:p>Immediately after the initial methionine codon, the PABPN1 gene encodes a stretch of 10 alanines, 1 glycine, and 2 alanines. Oculopharyngeal muscular dystrophy (OPMD) is caused by the expansion of the first 10 alanine stretches. The only exception is the missense mutation of glycine at the 12th residue into alanine, which elongates the stretch to 13 alanines by connecting the first and second stretch with the addition of one alanine in between, indicating that the expansion or elongation of the alanine stretch results in OPMD. We report a 77-year-old man with the novel missense mutation c.34G\u200a&gt;\u200aT (p.Gly12Trp) in PABPN1 gene whose clinicopathological findings were compatible with OPMD. He presented with slowly progressive bilateral ptosis, dysphagia, and symmetrical proximal dominant muscle weakness. Magnetic resonance imaging revealed selective fat replacement of the tongue, bilateral adductor magnus, and soleus muscles. Immunohistochemistry studies of the muscle biopsy sample revealed PABPN1-posibive aggregates in the myonuclei which have been reported to be specific to OPMD. This is the first OPMD case caused by neither the expansion nor the elongation of alanine stretch. The present case suggests that OPMD may be caused not only by triplet repeats but also by point mutations.<\/jats:p>","DOI":"10.3233\/jnd-221669","type":"journal-article","created":{"date-parts":[[2023,2,21]],"date-time":"2023-02-21T11:53:29Z","timestamp":1676980409000},"page":"459-463","source":"Crossref","is-referenced-by-count":3,"title":["A Case of Oculopharyngeal Muscular Dystrophy Caused by a Novel PABPN1 c.34G\u200a&gt;\u200aT (p.Gly12Trp) Point Mutation without Polyalanine Expansion"],"prefix":"10.1177","volume":"10","author":[{"given":"Yoshiaki","family":"Takahashi","sequence":"first","affiliation":[{"name":"Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobutoshi","family":"Morimoto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoaki","family":"Nada","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mizuki","family":"Morimoto","sequence":"additional","affiliation":[{"name":"Department of Neurology, Kagawa Prefectural Central Hospital, Kagawa, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyuki","family":"Eura","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narihiro","family":"Minami","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[{"name":"Department of Neuromuscular Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Tokyo, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","reference":[{"issue":"2","key":"10.3233\/JND-221669_ref1","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1038\/ng0298-164","article-title":"Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy","volume":"18","author":"Brais","year":"1998","journal-title":"Nat Genet"},{"key":"10.3233\/JND-221669_ref2","doi-asserted-by":"publisher","first-page":"e23","DOI":"10.1136\/jmg.2005.037598","article-title":"Oculopharyngeal muscular dystrophy: A point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation","volume":"43","author":"Robinson","year":"2006","journal-title":"J Med Genet"},{"issue":"11","key":"10.3233\/JND-221669_ref3","doi-asserted-by":"publisher","first-page":"809","DOI":"10.1016\/j.nmd.2011.06.003","article-title":"Two cases of oculopharyngeal muscular dystrophy (OPMD) with the rare PABPN1 c.35G>C; Gly12Ala point mutation","volume":"21","author":"Robinson","year":"2011","journal-title":"Neuromuscul Disord"},{"issue":"1","key":"10.3233\/JND-221669_ref4","doi-asserted-by":"publisher","first-page":"265","DOI":"10.1186\/s12883-021-02300-x","article-title":"A Japanese case of oculopharyngeal muscular dystrophy (OPMD) with PABPN1 c.35G>C; Gly12Ala point mutation","volume":"21","author":"Nishii","year":"2021","journal-title":"BMC Neurol"},{"issue":"5","key":"10.3233\/JND-221669_ref5","doi-asserted-by":"publisher","first-page":"576","DOI":"10.1136\/jnnp-2018-319578","article-title":"Muscle MRI in a large cohort of patients with oculopharyngeal muscular dystrophy","volume":"90","author":"Alonso-Jimenez","year":"2019","journal-title":"J Neurol Neurosurg Psychiatry"},{"issue":"1","key":"10.3233\/JND-221669_ref6","doi-asserted-by":"publisher","first-page":"176","DOI":"10.1186\/s40478-022-01482-w","article-title":"Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy","volume":"10","author":"Ogasawara","year":"2022","journal-title":"Acta Neuropathol Commun"},{"issue":"4","key":"10.3233\/JND-221669_ref7","doi-asserted-by":"publisher","first-page":"709","DOI":"10.1111\/ene.14131","article-title":"Value of insoluble PABPN1 accumulation in the diagnosis of oculopharyngeal muscular dystrophy","volume":"27","author":"Galimberti","year":"2020","journal-title":"Eur J Neurol"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"link":[{"URL":"https:\/\/content.iospress.com\/download?id=10.3233\/JND-221669","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,4,29]],"date-time":"2026-04-29T23:52:25Z","timestamp":1777506745000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/full\/10.3233\/JND-221669"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,5,2]]},"references-count":7,"journal-issue":{"issue":"3"},"URL":"https:\/\/doi.org\/10.3233\/jnd-221669","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,5,2]]}}}