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Articles Published Processes
11/8/2019 4:22:31 AM | Browse: 594 | Download: 917
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Received |
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2018-12-25 01:08 |
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Peer-Review Started |
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2018-12-27 07:25 |
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To Make the First Decision |
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2019-03-14 00:17 |
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Return for Revision |
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2019-03-19 03:01 |
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Revised |
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2019-08-23 14:43 |
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Second Decision |
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2019-09-05 08:47 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2019-09-09 08:33 |
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Articles in Press |
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2019-09-09 08:33 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2019-09-15 23:42 |
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Typeset the Manuscript |
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2019-10-27 09:33 |
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Publish the Manuscript Online |
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2019-11-08 04:22 |
| 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. |
| 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 |
Medicine, Research & Experimental |
| Manuscript Type |
Case Report |
| Article Title |
Compound heterozygous mutation of MUSK in a fetus causing fetal akinesia deformation sequence syndrome: Case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Na Li, Chong Qiao, Yuan Lv, Tian Yang, Hao Liu, Wen-Qian Yu and Cai-Xia Liu |
| ORCID |
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| 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 |
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| Corresponding Author |
Cai-Xia Liu, MD, Doctor, Doctor, Professor, Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, NO.36 San Hao Street, Shengyang 110004, Liaoning Province, China. liucx1716@163.com |
| Key Words |
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. |
| Publish Date |
2019-11-08 04:22 |
| 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; 7(21): 3655-3661 |
| URL |
https://www.wjgnet.com/2307-8960/full/v7/i21/3655.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v7.i21.3655 |
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