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4/29/2021 11:23:03 AM | Browse: 23 | Download: 13
Publication Name World Journal of Clinical Cases
Manuscript ID 64471
Country/Territory China
Category Orthopedics
Manuscript Type Case Report
Article Title Collagen VI-related myopathy with scoliosis alone: A case report and review of literature
Manuscript Source Unsolicited Manuscript
All Author List Jun-Yu Li, Shuo-Zi Liu, Dan-Feng Zheng, Ying-Shuang Zhang and Miao Yu
Funding Agency and Grant Number
Corresponding Author Miao Yu, PhD, 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.
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; In press
Received
2021-02-25 15:32
Peer-Review Started
2021-02-25 15:39
To Make the First Decision
Return for Revision
2021-04-13 04:16
Revised
2021-04-26 15:57
Second Decision
2021-04-29 06:06
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-04-29 11:23
Articles in Press
2021-04-29 11:23
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-05-12 04:57
Typeset the Manuscript
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.
Permissions For details, please visit: http://www.wjgnet.com/bpg/gerinfo/207
Publisher Baishideng Publishing Group Inc, 7041 Koll Center Parkway, Suite 160, Pleasanton, CA 94566, USA
Website http://www.wjgnet.com
Assistant Editor Assistant Editor
Science Editor Ze-Mao Gong
Reviewer Code 05383381, 05374991, and 05925332
Editorial Director
Journal Chief Editor
Company Chief Editor Jia-Ping Yan
Language Editor Donna Fox
Production Editor
Responsible Production Editor
Responsible Science Editor
Proofing Editorial Director Jin-Lei Wang
Proofing Editor-in-Chief Lian-Sheng Ma
Manuscript File 64471-Review-Filipodia-CL.docx
Answering Reviewers 64471-Answering reviewers.pdf
Audio Core Tip 64471-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 64471-Conflict-of-interest statement.pdf
Copyright License Agreement 64471-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 64471-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 64471-Language certificate.pdf
Peer-review Report 64471-Peer-review(s).pdf
Scientific Misconduct Check 64471-Bing-Gong ZM-2.png
Scientific Misconduct Check 64471-CrossCheck.png
Scientific Misconduct Check 64471-Scientific misconduct check.pdf
Scientific Editor Work List 64471-Scientific editor work list.pdf