Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Comment
. 2022 Nov 3;109(11):2088-2089.
doi: 10.1016/j.ajhg.2022.10.005.

RILPL1-related OPDM is absent in a Japanese cohort

Nobuyuki Eura  1 , Aritoshi Iida  2 , Masashi Ogasawara  3 , Shinichiro Hayashi  4 , Satoru Noguchi  4 , Ichizo Nishino  5
Affiliations
Comment

RILPL1-related OPDM is absent in a Japanese cohort

Nobuyuki Eura et al. Am J Hum Genet. .
No abstract available

PubMed Disclaimer

Conflict of interest statement

Declaration of interests The authors declare no competing interests.

Comment in

  • Response to Eura et al.
    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. Yu J, et al. Am J Hum Genet. 2022 Nov 3;109(11):2090-2091. doi: 10.1016/j.ajhg.2022.10.003. Am J Hum Genet. 2022. PMID: 36332613 Free PMC article. No abstract available.

Comment on

References

    1. Yu J., Shan J., Yu M., Di L., Xie Z., Zhang W., Lv H., Meng L., Zheng Y., Zhao Y., et al. The CGG repeat expansion in RILPL1 is associated with oculopharyngodistal myopathy type 4. Am. J. Hum. Genet. 2022;109:533–541. doi: 10.1016/j.ajhg.2022.01.012. - DOI - PMC - PubMed
    1. Ishiura H., Shibata S., Yoshimura J., Suzuki Y., Qu W., Doi K., Almansour M.A., Kikuchi J.K., Taira M., Mitsui J., et al. Noncoding CGG repeat expansions in neuronal intranuclear inclusion disease, oculopharyngodistal myopathy and an overlapping disease. Nat. Genet. 2019;51:1222–1232. doi: 10.1038/s41588-019-0458-z. - DOI - PubMed
    1. Deng J., Yu J., Li P., Luan X., Cao L., Zhao J., Yu M., Zhang W., Lv H., Xie Z., et al. Expansion of GGC Repeat in GIPC1 Is Associated with Oculopharyngodistal Myopathy. Am. J. Hum. Genet. 2020;106:793–804. doi: 10.1016/j.ajhg.2020.04.011. - DOI - PMC - PubMed
    1. Ogasawara M., Iida A., Kumutpongpanich T., Ozaki A., Oya Y., Konishi H., Nakamura A., Abe R., Takai H., Hanajima R., et al. CGG expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy with neurological manifestations. Acta Neuropathol. Commun. 2020;8:204. doi: 10.1186/s40478-020-01084-4. - DOI - PMC - PubMed
    1. Yu J., Deng J., Guo X., Shan J., Luan X., Cao L., Zhao J., Yu M., Zhang W., Lv H., et al. The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3. Brain. 2021;144:1819–1832. doi: 10.1093/brain/awab077. - DOI - PMC - PubMed

LinkOut - more resources