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5/5/2024 10:11:22 AM | Browse: 16 | Download: 1
Publication Name World Journal of Clinical Cases
Manuscript ID 92830
Country China
Received
2024-02-07 05:22
Peer-Review Started
2024-02-07 05:22
To Make the First Decision
Return for Revision
2024-03-02 06:58
Revised
2024-03-08 02:35
Second Decision
2024-03-28 06:50
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2024-03-28 07:40
Articles in Press
2024-03-28 07:40
Publication Fee Transferred
Edit the Manuscript by Language Editor
Typeset the Manuscript
2024-04-25 02:49
Publish the Manuscript Online
2024-05-05 10:11
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: https://creativecommons.org/Licenses/by-nc/4.0/
Copyright © The Author(s) 2024. 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 Pediatrics
Manuscript Type Case Report
Article Title Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report
Manuscript Source Unsolicited Manuscript
All Author List Jing Yuan and Xiang-Ming Yan
ORCID
Author(s) ORCID Number
Jing Yuan http://orcid.org/0000-0003-4803-3832
Xiang-Ming Yan http://orcid.org/0000-0002-5252-7096
Funding Agency and Grant Number
Funding Agency Grant Number
The Suzhou Science and Technology Development Plan Guiding Project SZSYYXH-2023-YB5
The Suzhou Science and Technology Development Plan Project SKY2023002
The Suzhou Key Laboratory of Children's Structural Deformities SZS2022018
Corresponding Author Xiang-Ming Yan, MD, Chief Doctor, Department of Surgery, Children's Hospital of Soochow University, No. 92 Zhong Nan Street, Industrial Park, Suzhou 215000, Jiangsu Province, China. yxmsz2003@163.com
Key Words Creatine kinase; LAMA2; Gene mutation; Neonate; Case report
Core Tip We analyzed the case of a neonate who appeared with only evelated creatine kinase (CK) and eventually was discharged after supportive treatment. The age of admission was 18 d, and the increased CK did not improve significantly after prolonged treatment with creatine and vitamin C. Whole exome sequencing identified the mutation of c.715C>G on LAMA2 in the newborn, which is associated with clinical phenotype.
Publish Date 2024-05-05 10:11
Citation Yuan J, Yan XM. Detection of LAMA2 c.715C>G:p.R239G mutation in a newborn with raised creatine kinase: A case report. World J Clin Cases 2024; 12(14): 2445-2450
URL https://www.wjgnet.com/2307-8960/full/v12/i14/2445.htm
DOI https://dx.doi.org/10.12998/wjcc.v12.i14.2445
Full Article (PDF) WJCC-12-2445-with-cover.pdf
CARE Checklist–2016 92830-CARE Checklist (2016).pdf
Manuscript File 92830_Auto_Edited-YJP.docx
Answering Reviewers 92830-Answering reviewers.pdf
Audio Core Tip 92830-Audio core tip.mp3
Conflict-of-Interest Disclosure Form 92830-Conflict-of-interest statement.pdf
Copyright License Agreement 92830-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 92830-Grant application form(s).pdf
Signed Consent for Treatment Form(s) or Document(s) 92830-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 92830-Language certificate.pdf
Peer-review Report 92830-Peer-review(s).pdf
Scientific Misconduct Check 92830-CrossCheck.png
Scientific Misconduct Check 92830-Bing-Zheng XM-2.png
Scientific Editor Work List 92830-Scientific editor work list.pdf