Publication Name	World Journal of Clinical Cases
Manuscript ID	92830
Country	China

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
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.
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; In press

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

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.
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