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Articles Published Processes
6/24/2021 7:26:33 AM | Browse: 478 | Download: 1109
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Received |
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2021-02-09 08:05 |
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Peer-Review Started |
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2021-02-09 08:08 |
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To Make the First Decision |
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Return for Revision |
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2021-02-28 17:59 |
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Revised |
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2021-03-08 15:55 |
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Second Decision |
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2021-04-12 12:33 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-04-12 16:52 |
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Articles in Press |
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2021-04-12 16:52 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-04-26 09:41 |
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Typeset the Manuscript |
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2021-05-31 11:50 |
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Publish the Manuscript Online |
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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. |
| 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 |
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
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Mi Yang and Ru-Xin Xing |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| the Medical and Health Science and Technology Program of Zhejiang Province |
2018273034 |
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| Corresponding Author |
Mi Yang, MD, PhD, Doctor, 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 |
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