{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,24]],"date-time":"2026-09-24T08:12:01Z","timestamp":1790237521659,"version":"4.1.0"},"reference-count":55,"publisher":"SAGE Publications","issue":"3","license":[{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"content-version":"unspecified","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by-nc\/4.0\/"},{"start":{"date-parts":[[2025,3,3]],"date-time":"2025-03-03T00:00:00Z","timestamp":1740960000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["Journal of Neuromuscular Diseases"],"published-print":{"date-parts":[[2025,5]]},"abstract":"<jats:p>\n                    Oculopharyngodistal myopathy (OPDM) is a rare muscular disorder characterized by ocular symptoms, pharyngeal symptoms, facial weakness, and distal predominant limb muscle weakness. The cause of the disease was unknown for a long time. Recently, however, it has been reported that expansions of CGG or CCG repeats in\n                    <jats:italic toggle=\"yes\">LRP12<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">LOC642361<\/jats:italic>\n                    \/\n                    <jats:italic toggle=\"yes\">NUTM2B-AS1<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">GIPC1<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">NOTCH2NLC<\/jats:italic>\n                    ,\n                    <jats:italic toggle=\"yes\">RILPL1<\/jats:italic>\n                    , and\n                    <jats:italic toggle=\"yes\">ABCD3<\/jats:italic>\n                    are the causes of the disease. Cases sometimes present with neurological symptoms, and the clinical spectrum of diseases caused by expansions of CGG or CCG repeats has been proposed to be called FNOP-spectrum disorder after the names of fragile X-associated tremor\/ataxia syndrome, neuronal intranuclear inclusion disease, oculopharyngeal myopathy with leukoencephalopathy, and OPDM. In this article, the recent progress in the field of OPDM is reviewed, and remaining issues in OPDM are discussed.\n                  <\/jats:p>","DOI":"10.1177\/22143602251319164","type":"journal-article","created":{"date-parts":[[2025,3,4]],"date-time":"2025-03-04T13:53:53Z","timestamp":1741096433000},"page":"303-311","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":8,"title":["Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints"],"prefix":"10.1177","volume":"12","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-2975-7309","authenticated-orcid":false,"given":"Hiroyuki","family":"Ishiura","sequence":"first","affiliation":[{"name":"Department of Neurology, Graduate School of Medicine, Dentistry and Pharmaceutical Sciences, Okayama University, Okayama, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"179","published-online":{"date-parts":[[2025,3,3]]},"reference":[{"key":"e_1_3_3_2_2","doi-asserted-by":"publisher","DOI":"10.1001\/archneur.1977.00500140043007"},{"key":"e_1_3_3_3_2","first-page":"272","article-title":"Oculopharyngodistal myopathy with early onset and neurogenic features","volume":"80","author":"Jasper HH","year":"1978","unstructured":"Jasper HH, Bastiaensen LAK, ter Laak HJ, et al. Oculopharyngodistal myopathy with early onset and neurogenic features. Clin Neurol Neurosurg 1978; 80: 272\u2013282.","journal-title":"Clin Neurol Neurosurg"},{"key":"e_1_3_3_4_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp.2003.025072"},{"key":"e_1_3_3_5_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(98)00002-9"},{"key":"e_1_3_3_6_2","doi-asserted-by":"publisher","DOI":"10.1016\/S0960-8966(01)00227-9"},{"key":"e_1_3_3_7_2","first-page":"1518","article-title":"Oculopharyngodistal myopathy in a Thai family","volume":"87","author":"Witoonpanich R","year":"2004","unstructured":"Witoonpanich R, Phankhian S, Sura T, et al. Oculopharyngodistal myopathy in a Thai family. J Med Assoc Thai 2004; 87: 1518\u20131521.","journal-title":"J Med Assoc Thai"},{"key":"e_1_3_3_8_2","doi-asserted-by":"publisher","DOI":"10.1111\/j.1440-1789.2008.00924.x"},{"key":"e_1_3_3_9_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2013.03.034"},{"key":"e_1_3_3_10_2","article-title":"Clinical and muscle imaging findings in 14 mainland Chinese patients with oculopharyngodistal myopathy","volume":"10","author":"Zhao J","year":"2015","unstructured":"Zhao J, Liu J, Xiao J, et al. Clinical and muscle imaging findings in 14 mainland Chinese patients with oculopharyngodistal myopathy. PLoS One 2015; 10: e0128629.","journal-title":"PLoS One"},{"key":"e_1_3_3_11_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2010.10.002"},{"key":"e_1_3_3_12_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e318207b043"},{"key":"e_1_3_3_13_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.nmd.2012.03.010"},{"key":"e_1_3_3_14_2","doi-asserted-by":"publisher","DOI":"10.1038\/ng0298-164"},{"key":"e_1_3_3_15_2","doi-asserted-by":"crossref","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 DO","year":"2006","unstructured":"Robinson DO, Wills AJ, Hammans SR, et al. Oculopharyngeal muscular dystrophy: a point mutation which mimics the effect of the PABPN1 gene triplet repeat expansion mutation. J Med Genet 2006; 43: e23.","journal-title":"J Med Genet"},{"key":"e_1_3_3_16_2","doi-asserted-by":"publisher","DOI":"10.3233\/JND-221669"},{"key":"e_1_3_3_17_2","doi-asserted-by":"publisher","DOI":"10.1007\/BF00692226"},{"key":"e_1_3_3_18_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-019-0458-z"},{"key":"e_1_3_3_19_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/aww249"},{"key":"e_1_3_3_20_2","doi-asserted-by":"publisher","DOI":"10.1111\/ggi.12725"},{"key":"e_1_3_3_21_2","doi-asserted-by":"publisher","DOI":"10.1212\/WNL.0b013e3182166e13"},{"key":"e_1_3_3_22_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2020.04.011"},{"key":"e_1_3_3_23_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awaa426"},{"key":"e_1_3_3_24_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-020-01084-4"},{"key":"e_1_3_3_25_2","doi-asserted-by":"publisher","DOI":"10.1093\/brain\/awab077"},{"key":"e_1_3_3_26_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.01.012"},{"key":"e_1_3_3_27_2","doi-asserted-by":"publisher","DOI":"10.1002\/ana.26436"},{"key":"e_1_3_3_28_2","doi-asserted-by":"publisher","DOI":"10.1186\/s12920-023-01586-9"},{"key":"e_1_3_3_29_2","doi-asserted-by":"publisher","DOI":"10.1136\/jmg-2023-109345"},{"key":"e_1_3_3_30_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.jgg.2023.12.009"},{"key":"e_1_3_3_31_2","doi-asserted-by":"crossref","unstructured":"Cortese A Beecroft SJ Facchini S et al. A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry. medRxiv 2023. DOI: https:\/\/doi.org\/10.1101\/2023.10.09.23296582.","DOI":"10.1101\/2023.10.09.23296582"},{"key":"e_1_3_3_32_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2022.10.005"},{"key":"e_1_3_3_33_2","doi-asserted-by":"publisher","DOI":"10.1001\/jamaneurol.2021.1509"},{"key":"e_1_3_3_34_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-022-01482-w"},{"key":"e_1_3_3_35_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-023-11906-9"},{"key":"e_1_3_3_36_2","doi-asserted-by":"publisher","DOI":"10.1111\/nan.12787"},{"key":"e_1_3_3_37_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.gde.2020.05.029"},{"key":"e_1_3_3_38_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2021.03.011"},{"key":"e_1_3_3_39_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-018-0067-2"},{"key":"e_1_3_3_40_2","doi-asserted-by":"publisher","DOI":"10.1038\/s10038-022-01116-y"},{"key":"e_1_3_3_41_2","doi-asserted-by":"publisher","DOI":"10.1002\/mus.27717"},{"key":"e_1_3_3_42_2","doi-asserted-by":"publisher","DOI":"10.1186\/s13148-021-01192-5"},{"key":"e_1_3_3_43_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ensci.2021.100348"},{"key":"e_1_3_3_44_2","doi-asserted-by":"publisher","DOI":"10.1136\/jnnp-2024-333403"},{"key":"e_1_3_3_45_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.05.014"},{"key":"e_1_3_3_46_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2013.03.026"},{"key":"e_1_3_3_47_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2016.12.016"},{"key":"e_1_3_3_48_2","doi-asserted-by":"publisher","DOI":"10.1186\/s40478-019-0782-7"},{"key":"e_1_3_3_49_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.neuron.2021.03.038"},{"key":"e_1_3_3_50_2","doi-asserted-by":"publisher","DOI":"10.1007\/s00401-021-02375-3"},{"key":"e_1_3_3_51_2","doi-asserted-by":"publisher","DOI":"10.1016\/j.ajhg.2023.11.008"},{"key":"e_1_3_3_52_2","doi-asserted-by":"publisher","DOI":"10.1002\/mds.29704"},{"key":"e_1_3_3_53_2","doi-asserted-by":"publisher","DOI":"10.1038\/s41588-024-01719-5"},{"key":"e_1_3_3_54_2","doi-asserted-by":"publisher","DOI":"10.1111\/joim.13815"},{"key":"e_1_3_3_55_2","doi-asserted-by":"publisher","DOI":"10.1126\/sciadv.add6391"},{"key":"e_1_3_3_56_2","doi-asserted-by":"publisher","DOI":"10.1212\/NXG.0000000000200170"}],"container-title":["Journal of Neuromuscular Diseases"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251319164","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/full-xml\/10.1177\/22143602251319164","content-type":"application\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/journals.sagepub.com\/doi\/pdf\/10.1177\/22143602251319164","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,6]],"date-time":"2026-01-06T06:39:50Z","timestamp":1767681590000},"score":1,"resource":{"primary":{"URL":"https:\/\/journals.sagepub.com\/doi\/10.1177\/22143602251319164"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2025,3,3]]},"references-count":55,"journal-issue":{"issue":"3","published-print":{"date-parts":[[2025,5]]}},"alternative-id":["10.1177\/22143602251319164"],"URL":"https:\/\/doi.org\/10.1177\/22143602251319164","relation":{},"ISSN":["2214-3599","2214-3602"],"issn-type":[{"value":"2214-3599","type":"print"},{"value":"2214-3602","type":"electronic"}],"subject":[],"published":{"date-parts":[[2025,3,3]]}}}