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6/24/2021 7:26:33 AM | Browse: 365 | Download: 651
Publication Name World Journal of Clinical Cases
Manuscript ID 62212
Country China
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
Publish the Manuscript Online
2021-06-24 07:26
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/
Copyright © The Author(s) 2021. Published by Baishideng Publishing Group Inc. All rights reserved.
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Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
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
ORCID
Author(s) ORCID Number
Mi Yang http://orcid.org/0000-0003-3920-8979
Ru-Xin Xing http://orcid.org/0000-0002-2559-4840
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.
Publish Date 2021-06-24 07:26
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
URL https://www.wjgnet.com/2307-8960/full/v9/i19/5226.htm
DOI https://dx.doi.org/10.12998/wjcc.v9.i19.5226
Full Article (PDF) WJCC-9-5226.pdf
Full Article (Word) WJCC-9-5226.docx
CARE Checklist–2016 62212-CARE-Checklist–2016-revision.pdf
Manuscript File 62212-Review-Filipodia.docx
Answering Reviewers 62212-Answering reviewers.pdf
Audio Core Tip 62212-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 62212-Conflict-of-interest statement.pdf
Copyright License Agreement 62212-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 62212-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 62212-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 62212-Language certificate.pdf
Peer-review Report 62212-Peer-review(s).pdf
Scientific Misconduct Check 62212-Bing-Wang JL-1.jpg
Scientific Misconduct Check 62212-Scientific misconduct check.pdf
Scientific Editor Work List 62212-Scientific editor work list.pdf