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4/12/2021 4:52:57 PM | Browse: 119 | Download: 217
Publication Name World Journal of Clinical Cases
Manuscript ID 62212
Country/Territory China
Category Clinical Neurology
Manuscript Type Case Report
Article Title Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report
Manuscript Source Unsolicited Manuscript
All Author List Mi Yang and Ru-Xin Xing
Funding Agency and Grant Number
Funding Agency Grant Number
the Medical and Health Science and Technology Program of Zhejiang Province 2018273034
Corresponding Author Mi Yang, MD, PhD, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, No. 1 Shangcheng Avenue, Yiwu 322000, Zhejiang Province, China. mier999@zju.edu.cn
Key Words Congenital muscular dystrophy; CRPPA; Mutation; Dystroglycanopathy; Case report
Core Tip A homozygous deletion c. 1114-1116del (p.V372del) was identified in the exon 8 of the CRPPA gene in a chinese family, which is diagnosed as Congenital muscular dystrophy (CMD). Mutations in the CRPPA gene were recognized as causative factors of dystroglycanopathies, a subtype of CMD with defects in glycosylation. Findings in this study expanded the clinical and mutational spectrum of CMD patients with the CRPPA gene.
Citation Yang M, Xing RX. Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report. World J Clin Cases 2021; 9(19): 5226-5231
Received
2021-02-09 08:05
Peer-Review Started
2021-02-09 08:08
To Make the First Decision
Return for Revision
2021-02-28 17:59
Revised
2021-03-08 15:55
Second Decision
2021-04-12 12:33
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-04-12 16:52
Articles in Press
2021-04-12 16:52
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-04-26 09:41
Typeset the Manuscript
2021-05-31 11:50
ISSN 2307-8960 (online)
Open Access This article is an open-access article that was selected by an in-house editor and fully peer-reviewed by external reviewers. It is distributed in accordance with the Creative Commons Attribution NonCommercial (CC BY-NC 4.0) license, which permits others to distribute, remix, adapt, build upon this work non-commercially, and license their derivative works on different terms, provided the original work is properly cited and the use is non-commercial. See: http://creativecommons.org/Licenses/by-nc/4.0/
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