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Articles Published Processes
1/15/2022 12:57:35 PM | Browse: 370 | Download: 632
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Received |
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2021-06-21 08:55 |
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Peer-Review Started |
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2021-06-21 08:56 |
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To Make the First Decision |
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Return for Revision |
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2021-07-26 07:50 |
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Revised |
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2021-08-20 13:04 |
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Second Decision |
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2021-12-20 03:27 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-12-23 04:29 |
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Articles in Press |
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2021-12-23 04:29 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-12-16 12:57 |
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Typeset the Manuscript |
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2022-01-10 02:41 |
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Publish the Manuscript Online |
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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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| Permissions |
For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
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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
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Wen-Juan Wu, Su-Zhen Sun and Bao-Guang Li |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Bao-Guang Li, MD, Doctor, 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 |
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