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Publication Name World Journal of Clinical Cases
Manuscript ID 45079
Country of Manuscript Source China
Specialty Medicine, Research and Experimental
Manuscript type Case Report
Article Title Compound heterozygous mutation of MUSK in a fetus causing fetal akinesia deformation sequence syndrome: Case report
Manuscript Source Unsolicited Manuscript
All Author List Na Li, Chong Qiao, Yuan Lv, Tian Yang, Hao Liu, Wen-Qian Yu and Cai-Xia Liu
Funding Agency and Grant Number
Funding Agency Grant Number
Natural Science Foundation of China NO. 81701462 to Yuan Lv
Natural Science Foundation of China NO.81771610 to Chong Qiao
The China National Health and Family Planning Commission No. 201402006 to Caixia Liu
The National Key Research and Development Program of Reproductive Health & Major Birth Defects Control and Prevention NO. 2016YFC1000404 to Chong Qiao
The Science and Technology Project of Liaoning Provincial Education Department NO. LS201611 for Na Li
Correspondence To Cai-Xia Liu, MD, Doctor, Professor, obstetrcis, Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, NO.36 San Hao Street, Shengyang 110004, Liaoning Province, China. liucx1716@163.com
Keywords Muscle-specific tyrosine kinase receptor gene; Fetal akinesia deformation sequence; Joint contractures; Case report; ;
Core Tip Fetal akinesia deformation sequence (FADS) is a broad spectrum disorder with absent fetal movements, the etiology of FADS is heterogeneous. Mutations in genes expressed at the neuromuscular junction (NMJ) are increasingly recognized as important causes of FADS. Muscel-specific tyrosine kinase receptor (MUSK) is required for the formation and maintenance of the NMJ. Here we describe a compound heterozygous mutation of the MUSK gene that caused FADS in China.
Citation Li N, Qiao C, Lv Y, Yang T, Liu H, Yu WQ, Liu CX. Compound heterozygous mutation of MUSK in a fetus causing fetal akinesia deformation sequence syndrome: Case report. World J Clin Cases 2019; In press
Received
2018-12-25 01:08
Peer-Review Started
2018-12-27 07:25
To Make the First Decision
2019-03-14 00:17
Return for Revision
2019-03-19 03:01
Revised
2019-08-23 14:43
Second Decision
2019-09-05 08:47
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2019-09-09 08:33
Articles in Press
2019-09-09 08:33
Publication Fee Transferred
Edit the Manuscript by Language Editor
2019-09-15 23:42
Typeset the Manuscript
ISSN 2307-8960 (online)
Open Access This 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 Non Commercial (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) 2019. 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 Xiang Li
Science Editor Ying Dou
Reviewer Code 03702209
Editorial Director Jin-Lei Wang
Journal Chief Editor
Company Chief Editor Lian-Sheng Ma
Language Editor Tian-Qi Wang
Electronic Editor
Responsible Electronic Editor
Responsible Science Editor
Proofing Editorial Director Jin-Lei Wang
Proofing Editor-in-Chief Lian-Sheng Ma
Manuscript File 45079-Review_Edited.docx
Answering Reviewers 45079-Answering reviewers.pdf
Audio Core Tip 45079-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 45079-Conflict-of-interest statement.pdf
Copyright License Agreement 45079-Copyright license agreement.pdf
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 45079-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 45079-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 45079-Language certificate.pdf
Peer-review Report 45079-Peer-review(s).pdf
Scientific Misconduct Check 45079-Scientific misconduct check.pdf
Scientific Editor Work List 45079-Scientific editor work list.pdf