| 1 | GIPC1, LRP12, NOTCH2NLC, OPDM1, OPDM2, OPDM3, OPDM4, RILPL1
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| The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4
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| Yu J, Shan J, Yu M, Di L, Xie Z, Zhang W, Lv H, Meng L, Zheng Y, Zhao Y, Gang Q, Guo X, Wang Y, Xi J, Zhu W, Da Y, Hong D, Yuan Y, Yan C, Wang Z, Deng J.
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| Am J Hum Genet. Mar 3;109(3):533-541. doi: 10.1016/j.ajhg.2022.01.012. Epub 2022 Feb 10. 2022
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| 2 | GIPC1, LRP12, NOTCHNLC, OPDM1, OPDM2, OPDM3, OPDM4, RILPL1
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| Oculopharyngodistal myopathy with CGG repeat expansions in GIPC1: the first report from southwestern China
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| An R, Chen H, Gu W, Xu Y, He C.
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| Neurol Sci. Mar 22. doi: 10.1007/s10072-022-06005-y. Epub ahead of print. 2022
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| 3 | LRP12, OPDM1
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| Clinicopathologic Features of Oculopharyngodistal Myopathy With LRP12 CGG Repeat Expansions Compared With Other Oculopharyngodistal Myopathy Subtypes.
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| Kumutpongpanich T, Ogasawara M, Ozaki A, Ishiura H, Tsuji S, Minami N, Hayashi S, Noguchi S, Iida A, Nishino I; OPDM_LRP12 Study Group, Mori-Yoshimura M, Oya Y, Ono K, Shimizu T, Kawata A, Shimohama S, Toyooka K, Endo K, Toru S, Sasaki O, Isahaya K, Takahashi MP, Iwasa K, Kira JI, Yamamoto T, Kawamoto M, Hamano T, Sugie K, Eura N, Shiota T, Koide M, Sekiya K, Kishi H, Hideyama T, Kawai S, Yanagimoto S, Sato H, Arahata H, Murayama S, Saito K, Hara H, Kanda T, Yaguchi H, Imai N, Kawagashira Y, Sanada M, Obara K, Kaido M, Furuta M, Kurashige T, Hara W, Kuzume D, Yamamoto M, Tsugawa J, Kishida H, Ishizuka N, Morimoto K, Tsuji Y, Tsuneyama A, Matsuno A, Sasaki R, Tamakoshi D, Abe E, Yamada S, Uzawa A.
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| JAMA Neurol. Jul 1;78(7):853-863. doi: 10.1001/jamaneurol.2021.1509. 2021
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| 4 | OPDM1
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| Neuropathy/intranuclear inclusion bodies in oculopharyngodistal myopathy: A case report.
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| Matsubara T, Saito Y, Kurashige T, Higashihara M, Hasegawa F, Ogasawara M, Iida A, Nishino I, Adachi T, Kubota A, Murayama S.
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| eNeurologicalSci. Jun 4;24:100348. doi: 10.1016/j.ensci.2021.100348. eCollection 2021 Sep 2021
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| 5 | LRP12, OPDM1
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| Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease.
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| Ishiura H, Shibata S, Yoshimura J, Suzuki Y, Qu W, Doi K, Almansour MA, Kikuchi JK, Taira M, Mitsui J, Takahashi Y, Ichikawa Y, Mano T, Iwata A, Harigaya Y, Matsukawa MK, Matsukawa T, Tanaka M, Shirota Y, Ohtomo R, Kowa H, Date H, Mitsue A, Hatsuta H, Morimoto S, Murayama S, Shiio Y, Saito Y, Mitsutake A, Kawai M, Sasaki T, Sugiyama Y, Hamada M, Ohtomo G, Terao Y, Nakazato Y, Takeda A, Sakiyama Y, Umeda-Kameyama Y, Shinmi J, Ogata K, Kohno Y, Lim SY, Tan AH, Shimizu J, Goto J, Nishino I, Toda T, Morishita S, Tsuji S.
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| Nat Genet. Aug;51(8):1222-1232. doi: 10.1038/s41588-019-0458-z. Epub 2019 Jul 22. 2019
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| 6 | OPDM1
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| Oculopharyngodistal myopathy is a distinct entity: clinical and genetic features of 47 patients.
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| Durmus H, Laval SH, Deymeer F, Parman Y, Kiyan E, Gokyigiti M, Ertekin C, Ercan I, Solakoglu S, Karcagi V, Straub V, Bushby K, Lochmüller H, Serdaroglu-Oflazer P.
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| Neurology. Jan 18;76(3):227-35. doi: 10.1212/WNL.0b013e318207b043. 2011
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