{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T03:52:45Z","timestamp":1781927565032,"version":"3.54.5"},"reference-count":15,"publisher":"Japanese Society of Internal Medicine","issue":"12","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Intern. Med."],"published-print":{"date-parts":[[2026,6,15]]},"DOI":"10.2169\/internalmedicine.6194-25","type":"journal-article","created":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T22:07:24Z","timestamp":1761170844000},"page":"1688-1692","source":"Crossref","is-referenced-by-count":0,"title":["A Family with Patients Manifesting Different Phenotypes of Neuromuscular Disease Depending on the CGG Repeat Number in &lt;i&gt;LRP12&lt;\/i&gt;"],"prefix":"10.2169","volume":"65","author":[{"given":"Yohei","family":"Iguchi","sequence":"first","affiliation":[{"name":"Department of Neurology, Nagoya University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koyo","family":"Tsujikawa","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nagoya University Graduate School of Medicine, Japan"},{"name":"Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayuka","family":"Murakami","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nagoya University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kodai","family":"Kume","sequence":"additional","affiliation":[{"name":"Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuka","family":"Nakazawa","sequence":"additional","affiliation":[{"name":"Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan"},{"name":"Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taichi","family":"Oso","sequence":"additional","affiliation":[{"name":"Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan"},{"name":"Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Nishio","sequence":"additional","affiliation":[{"name":"Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Koji","family":"Matsuo","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nagoya University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yuki","family":"Fukami","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nagoya University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Kunihiko","family":"Araki","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nagoya University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tomoo","family":"Ogi","sequence":"additional","affiliation":[{"name":"Department of Molecular Epidemiology, Research Institute for Radiation Biology and Medicine, Hiroshima University, Japan"},{"name":"Department of Human Genetics and Molecular Biology, Graduate School of Medicine, Nagoya University, Japan"},{"name":"Division of Animal Medical Science, Center for One Medicine Innovative Translational Research, Nagoya University, Japan"},{"name":"Division of Molecular Physiology and Dynamics, Institute for Glyco-core Research, Nagoya University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hideshi","family":"Kawakami","sequence":"additional","affiliation":[{"name":"Department of Genetics, Research Institute of Environmental Medicine, Nagoya University, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Masahisa","family":"Katsuno","sequence":"additional","affiliation":[{"name":"Department of Neurology, Nagoya University Graduate School of Medicine, Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"962","reference":[{"key":"1","doi-asserted-by":"crossref","unstructured":"1. Depienne C, Mandel JL. 30 years of repeat expansion disorders: what have we learned and what are the remaining challenges? Am J Hum Genet 108: 764-785, 2021.","DOI":"10.1016\/j.ajhg.2021.03.011"},{"key":"2","doi-asserted-by":"crossref","unstructured":"2. Yu J, Shan J, Yu M, et al. The CGG repeat expansion in <i>RILPL1<\/i> is associated with oculopharyngodistal myopathy type 4. Am J Hum Genet 109: 533-541, 2022.","DOI":"10.1016\/j.ajhg.2022.01.012"},{"key":"3","unstructured":"3. Ishiura H, Shibata S, Yoshimura J, et al. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat Genet 51: 1222-1232, 2019."},{"key":"4","doi-asserted-by":"crossref","unstructured":"4. Deng J, Yu J, Li P, et al. Expansion of GGC Repeat in <i>GIPC1<\/i> is associated with oculopharyngodistal myopathy. Am J Hum Genet 106: 793-804, 2020.","DOI":"10.1016\/j.ajhg.2020.04.011"},{"key":"5","doi-asserted-by":"crossref","unstructured":"5. Kumutpongpanich T, Ogasawara M, Ozaki A, et al. Clinicopathologic features of oculopharyngodistal myopathy with <i>LRP12<\/i> CGG repeat expansions compared with other oculopharyngodistal myopathy subtypes. JAMA Neurol 78: 853-863, 2021.","DOI":"10.1001\/jamaneurol.2021.1509"},{"key":"6","unstructured":"6. Cortese A, Beecroft SJ, Facchini S, et al. A CCG expansion in <i>ABCD3<\/i> causes oculopharyngodistal myopathy in individuals of European ancestry. Nat Commun 15: 6327, 2024."},{"key":"7","doi-asserted-by":"crossref","unstructured":"7. Pongpakdee S, Apiwattanakul M, Termglinchan T, et al. CGG\/CCG repeat expansions in <i>LOC642361<\/i>\/<i>NUTM2B-AS1<\/i> in Thai patients with oculopharyngodistal myopathy. Neurol Genet 10: e200170, 2024.","DOI":"10.1212\/NXG.0000000000200170"},{"key":"8","doi-asserted-by":"crossref","unstructured":"8. Kume K, Kurashige T, Muguruma K, et al. CGG repeat expansion in <i>LRP12<\/i> in amyotrophic lateral sclerosis. Am J Hum Genet 110: 1086-1097, 2023.","DOI":"10.1016\/j.ajhg.2023.05.014"},{"key":"9","doi-asserted-by":"crossref","unstructured":"9. Hobara T, Ando M, Higuchi Y, et al. Linking <i>LRP12<\/i> CGG repeat expansion to inherited peripheral neuropathy. J Neurol Neurosurg Psychiatry 96: 140-149, 2025.","DOI":"10.1136\/jnnp-2024-333403"},{"key":"10","doi-asserted-by":"crossref","unstructured":"10. Eura N, Noguchi S, Ogasawara M, et al. Characteristics of the muscle involvement along the disease progression in a large cohort of oculopharyngodistal myopathy compared to oculopharyngeal muscular dystrophy. J Neurol 270: 5988-5998, 2023.","DOI":"10.1007\/s00415-023-11906-9"},{"key":"11","doi-asserted-by":"crossref","unstructured":"11. Senju C, Nakazawa Y, Oso T, et al. Deep intronic founder mutations identified in the ERCC4\/XPF gene are potential therapeutic targets for a high-frequency form of xeroderma pigmentosum. Proc Natl Acad Sci 120: e2217423120, 2023.","DOI":"10.1073\/pnas.2217423120"},{"key":"12","doi-asserted-by":"crossref","unstructured":"12. Ogasawara M, Eura N, Iida A, et al. Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy. Acta Neuropathol Commun 10: 176, 2022.","DOI":"10.1186\/s40478-022-01482-w"},{"key":"13","doi-asserted-by":"crossref","unstructured":"13. Shimizu T, Ishiura H, Hara M, et al. Expanded clinical spectrum of oculopharyngodistal myopathy type 1. Muscle Nerve 66: 679-685, 2022.","DOI":"10.1002\/mus.27717"},{"key":"14","doi-asserted-by":"crossref","unstructured":"14. Ishiura H. Recent progress in oculopharyngodistal myopathy research from clinical and genetic viewpoints. J Neuromuscul Dis 22143602251319164, 2025.","DOI":"10.1177\/22143602251319164"},{"key":"15","doi-asserted-by":"crossref","unstructured":"15. Rudaks LI, Stevanovski I, Yeow D, et al. Targeted long-read sequencing as a single assay improves the diagnosis of spastic-ataxia disorders. Ann Clin Transl Neurol 12: 832-841, 2025.","DOI":"10.1002\/acn3.70008"}],"container-title":["Internal Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/65\/12\/65_6194-25\/_pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,6,20]],"date-time":"2026-06-20T03:37:23Z","timestamp":1781926643000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.jstage.jst.go.jp\/article\/internalmedicine\/65\/12\/65_6194-25\/_article"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,6,15]]},"references-count":15,"journal-issue":{"issue":"12","published-print":{"date-parts":[[2026]]}},"URL":"https:\/\/doi.org\/10.2169\/internalmedicine.6194-25","relation":{},"ISSN":["0918-2918","1349-7235"],"issn-type":[{"value":"0918-2918","type":"print"},{"value":"1349-7235","type":"electronic"}],"subject":[],"published":{"date-parts":[[2026,6,15]]},"article-number":"6194-25"}}