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To address the diagnostic gap, we evaluated the muscle biopsy samples for p62 expression by immunohistochemistry and compared the occurrence and the frequency of intranuclear inclusions among the individuals with OPDM (harboring CGG repeat expansion in <jats:italic>LRP12<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u200919), <jats:italic>GIPC1<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20096), or <jats:italic>NOTCH2NLC<\/jats:italic> (<jats:italic>n<\/jats:italic>\u2009=\u20097)), OPMD (<jats:italic>n<\/jats:italic>\u2009=\u200915), and other rimmed vacuolar myopathies. We found that myonuclei with p62-positive intra-nuclear inclusions (myo-INIs) were significantly more frequent in OPMD (11.9\u2009\u00b1\u20091.1%, range 5.9\u201318.6%) than in OPDM and other rimmed vacuolar myopathies (RVMs) (0.9\u20131.5% on average, range 0.0\u20132.8%, <jats:italic>p<\/jats:italic>\u2009&lt;\u20090.0001). In contrast, INIs in non-muscle cells such as blood vessels, peripheral nerve bundles, and muscle spindles (non-muscle-INIs) were present in OPDM, but absent in OPMD. These results indicate that OPMD can be differentiated from OPDM and other RVMs by the frequent presence of myo-INIs; and in OPDM, the presence of non-muscle-INIs in muscle pathology should be a diagnostic hallmark.<\/jats:p>","DOI":"10.1186\/s40478-022-01482-w","type":"journal-article","created":{"date-parts":[[2022,12,7]],"date-time":"2022-12-07T10:03:59Z","timestamp":1670407439000},"update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":18,"title":["Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy"],"prefix":"10.1186","volume":"10","author":[{"given":"Masashi","family":"Ogasawara","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nobuyuki","family":"Eura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Aritoshi","family":"Iida","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Theerawat","family":"Kumutpongpanich","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Narihiro","family":"Minami","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ikuya","family":"Nonaka","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Shinichiro","family":"Hayashi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Satoru","family":"Noguchi","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9452-112X","authenticated-orcid":false,"given":"Ichizo","family":"Nishino","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","published-online":{"date-parts":[[2022,12,7]]},"reference":[{"key":"1482_CR1","doi-asserted-by":"publisher","first-page":"164","DOI":"10.1038\/ng0298-164","volume":"18","author":"B Brais","year":"1998","unstructured":"Brais B, Bouchard JP, Xie YG, Rochefort DL, Chretien N, Tome FM et al (1998) Short GCG expansions in the PABP2 gene cause oculopharyngeal muscular dystrophy. 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This study was approved by the ethical committees of the NCNP (A2019-123).","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consent to participate"}},{"value":"The authors report no competing interests.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}],"article-number":"176"}}