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Articles Published Processes
6/24/2021 7:26:33 AM | Browse: 404 | Download: 948
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Received |
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2021-02-25 15:32 |
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Peer-Review Started |
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2021-02-25 15:39 |
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To Make the First Decision |
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Return for Revision |
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2021-04-13 04:16 |
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Revised |
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2021-04-26 15:57 |
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Second Decision |
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2021-04-29 06:06 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-04-29 11:23 |
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Articles in Press |
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2021-04-29 11:23 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-05-12 04:57 |
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Typeset the Manuscript |
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2021-06-16 00:04 |
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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 |
Orthopedics |
| Manuscript Type |
Case Report |
| Article Title |
Collagen VI-related myopathy with scoliosis alone: A case report and review of literature
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Jun-Yu Li, Shuo-Zi Liu, Dan-Feng Zheng, Ying-Shuang Zhang and Miao Yu |
| ORCID |
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| Funding Agency and Grant Number |
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| Corresponding Author |
Miao Yu, PhD, Doctor, Doctor, Department of Orthopaedics, Peking University Third Hospital, No. 49 Huayuan North Road, Haidian District, Beijing 100083, China. miltonyu@126.com |
| Key Words |
Paravertebral pathology; Scoliosis; Collagen VI-related myopathy; Genetic testing; Neuromuscular diseases; Case report |
| Core Tip |
Here we report a patient diagnosed as congenital scoliosis initially with a deformity of the vertebral body. However, the gene analysis indicated mutations in COL6A1 (c.1612-10G>A) and COL6A2 (c.115+10G>T, c.2749G>A). Immunohistochemistry of collagen VI displayed shallow and discontinuous staining. This newly found subtype of collagen VI-related myopathy has no weakness, hypotonia, laxity of distal joints, contractures of proximal joints and is characterized by severe scoliosis and congenital vertebral deformity, implying the underlying etiology of congenital scoliosis may be a special type of collagen VI-related myopathy. |
| Publish Date |
2021-06-24 07:26 |
| Citation |
Li JY, Liu SZ, Zheng DF, Zhang YS, Yu M. Collagen VI-related myopathy with scoliosis alone: A case report and review of literature. World J Clin Cases 2021; 9(19): 5302-5312 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i19/5302.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i19.5302 |
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