Publication Name	World Journal of Clinical Cases
Manuscript ID	45079
Country	China

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
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
Corresponding Author	Cai-Xia Liu, MD, 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.
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

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	2019-10-27 09:33

ISSN	2307-8960 (online)
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