Response to Eura et al

Affiliations

¹ Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.
² Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, China; Brain Science Research Institute, Shandong University, Jinan, China.
³ Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
⁴ Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
⁵ Grandomics Biosciences, Beijing, 100000, China.
⁶ Department of Neurology, Huashan Hospital Fudan University, Shanghai, 200040, China.
⁷ Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.
⁸ Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China. Electronic address: drwangzx@163.com.
⁹ Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China. Electronic address: jianwendeng@pkufh.com.

Comment

Jiaxi Yu et al. Am J Hum Genet. 2022.

. 2022 Nov 3;109(11):2090-2091.

doi: 10.1016/j.ajhg.2022.10.003.

¹ Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China.
² Research Institute of Neuromuscular and Neurodegenerative Diseases and Department of Neurology, Qilu Hospital, Shandong University, Jinan, 250012, China; Mitochondrial Medicine Laboratory, Qilu Hospital (Qingdao), Shandong University, Qingdao, China; Brain Science Research Institute, Shandong University, Jinan, China.
³ Department of Neurology, Peking University First Hospital, Beijing, 100034, China.
⁴ Department of Neurology, Xuanwu Hospital, Capital Medical University, Beijing, 100053, China.
⁵ Grandomics Biosciences, Beijing, 100000, China.
⁶ Department of Neurology, Huashan Hospital Fudan University, Shanghai, 200040, China.
⁷ Department of Neurology, The First Affiliated Hospital of Nanchang University, Nanchang, 330006, China.
⁸ Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China. Electronic address: drwangzx@163.com.
⁹ Department of Neurology, Peking University First Hospital, Beijing, 100034, China; Beijing Key Laboratory of Neurovascular Disease Discovery, Beijing, 100034, China. Electronic address: jianwendeng@pkufh.com.

No abstract available

Conflict of interest statement

Declaration of interests The authors declare no competing interests.

RILPL1-related OPDM is absent in a Japanese cohort.
Eura N, Iida A, Ogasawara M, Hayashi S, Noguchi S, Nishino I. Eura N, et al. Am J Hum Genet. 2022 Nov 3;109(11):2088-2089. doi: 10.1016/j.ajhg.2022.10.005. Am J Hum Genet. 2022. PMID: 36332612 Free PMC article. No abstract available.

1. Eura M., Iida A., Ogasawara M., Hayashi S., Noguchi S., Nishino I. 2022. CGG repeat expansion in RILPL1 is absent in 159 individuals in Japanese cohort of oculopharyngodistal myopathy.
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. Zeng Y., Yang K., Du G., Chen Y., Cao C., Qiu Y., He J., Lv H., Qu Q., Chen J., et al. GGC Repeat Expansion of RILPL1 is Associated with Oculopharyngodistal Myopathy. Ann. Neurol. 2022;92:512–526. doi: 10.1002/ana.26436. - DOI - PubMed
1. Depienne C., Mandel J.L. 30 years of repeat expansion disorders: What have we learned and what are the remaining challenges? Am. J. Hum. Genet. 2021;108:764–785. doi: 10.1016/j.ajhg.2021.03.011. - DOI - PMC - PubMed
1. Balendra R., Isaacs A.M. C9orf72-mediated ALS and FTD: multiple pathways to disease. Nat. Rev. Neurol. 2018;14:544–558. doi: 10.1038/s41582-018-0047-2. - DOI - PMC - PubMed