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1/15/2022 1:14:23 PM | Browse: 350 | Download: 303
Publication Name World Journal of Clinical Cases
Manuscript ID 69218
Country/Territory China
Received
2021-06-21 08:55
Peer-Review Started
2021-06-21 08:56
To Make the First Decision
Return for Revision
2021-07-26 07:50
Revised
2021-08-20 13:04
Second Decision
2021-12-20 03:27
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-12-23 04:29
Articles in Press
2021-12-23 04:29
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-12-16 12:57
Typeset the Manuscript
2022-01-10 02:41
Publish the Manuscript Online
2022-01-15 12:57
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) 2022. Published by Baishideng Publishing Group Inc. All rights reserved.
Article Reprints For details, please visit: http://www.wjgnet.com/bpg/gerinfo/247
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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 Genetics & Heredity
Manuscript Type Case Report
Article Title Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports
Manuscript Source Unsolicited Manuscript
All Author List Wen-Juan Wu, Su-Zhen Sun and Bao-Guang Li
Funding Agency and Grant Number
Corresponding Author Bao-Guang Li, MD, Doctor, Department of Neurology, Hebei Children's Hospital, Hebei Children's Hospital Affiliated to Hebei Medical University, No. 133 Jianhua Nan street, Shijiazhuang 050031, Hebei Province, China. 317491448@qq.com
Key Words Beta1,3-N-acetylgalactosaminyltransferase 2 gene; Congenital muscular dystrophy; Epilepsy; Language development retardation; Autism; Case report
Core Tip Mutations in the beta1,3-N-acetylgalactosaminyltransferase 2 (B3GALNT2) gene can lead to impaired glycosylation of α-dystroglycan, which, in turn, causes congenital muscular dystrophy (CMD). The clinical phenotypes of CMD are broad, and there are only a few reports of CMD worldwide. This paper introduces two cases of congenital dystrophy caused by mutation of the B3GALNT2 gene. Briefly, 19 children with B3GALNT2 gene mutation published in the world were reviewed. Clinical characteristics and mutation genotypes of 21 children were analyzed, and the pathogenesis is discussed.
Publish Date 2022-01-15 12:57
Citation Wu WJ, Sun SZ, Li BG. Congenital muscular dystrophy caused by beta1,3-N-acetylgalactosaminyltransferase 2 gene mutation: Two case reports. World J Clin Cases 2022; 10(3): 1056-1066
URL https://www.wjgnet.com/2307-8960/full/v10/i3/1056.htm
DOI https://dx.doi.org/10.12998/wjcc.v10.i3.1056
Full Article (PDF) WJCC-10-1056.pdf
Full Article (Word) WJCC-10-1056.docx
Manuscript File 69218_Auto_Edited-JJ Wang-WangTQ.docx
Answering Reviewers 69218-Answering reviewers.pdf
Audio Core Tip 69218-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 69218-Conflict-of-interest statement.pdf
Copyright License Agreement 69218-Copyright license agreement.pdf
Signed Consent for Treatment Form(s) or Document(s) 69218-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 69218-Language certificate.pdf
Peer-review Report 69218-Peer-review(s).pdf
Scientific Misconduct Check 69218-Bing-Gong ZM-1.png
Scientific Misconduct Check 69218-Bing-Wang JJ-2.png
Scientific Editor Work List 69218-Scientific editor work list.pdf