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Articles Published Processes
12/30/2021 8:21:53 AM | Browse: 403 | Download: 1126
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Received |
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2021-07-12 14:05 |
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Peer-Review Started |
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2021-07-12 14:07 |
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To Make the First Decision |
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Return for Revision |
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2021-07-26 03:31 |
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Revised |
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2021-07-28 16:39 |
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Second Decision |
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2021-11-22 03:29 |
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Accepted by Journal Editor-in-Chief |
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Accepted by Executive Editor-in-Chief |
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2021-11-28 07:30 |
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Articles in Press |
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2021-11-28 07:30 |
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Publication Fee Transferred |
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Edit the Manuscript by Language Editor |
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2021-11-16 03:38 |
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Typeset the Manuscript |
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2021-12-14 09:29 |
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Publish the Manuscript Online |
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2021-12-30 08:21 |
| 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: http://creativecommons.org/Licenses/by-nc/4.0/ |
| Copyright |
© The Author(s) 2022. 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 |
Pediatrics |
| Manuscript Type |
Case Report |
| Article Title |
Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report
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| Manuscript Source |
Invited Manuscript |
| All Author List |
Jun Hu, Yan-Hui Chen, Xin Fang, Yu Zhou and Feng Chen |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| the Research Project of Joint Funds for the Innovation of Science and Technology, Fujian Province |
2018Y9029 |
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| Corresponding Author |
Jun Hu, Doctor, PhD, Assistant Professor, Chief Physician, Department of Pediatrics, Fujian Medical University Union Hospital, No.29 Xinquan Road, Fuzhou 350001, Fujian Province, China. hujun2252@hotmail.com |
| Key Words |
Ullrich congenital muscular dystrophy; COL6A2; Mutation; Prenatal diagnosis; Case report |
| Core Tip |
We report the clinical manifestations and prenatal diagnosis of compound heterozygous mutations of the COL6A2 gene in a Chinese family with Ullrich congenital muscular dystrophy (UCMD). A 3-year-old boy and his 4-year-old brother had typical UCMD manifestations of the early-severe subtype. They carried two mutations of the COL6A2 gene (c.1353_c.1354 ins C, p.Arg453ProfsTer42/c.2105 G>A, p.Trp702Ter). The absence of collagen VI staining in the younger brother’s muscle was identified accurately. A 20-wk-old fetus in their mother’s womb underwent prenatal diagnosis and carried the same two mutations. After a painful psychological struggle, their parents decided to terminate the pregnancy. |
| Publish Date |
2021-12-30 08:21 |
| Citation |
Hu J, Chen YH, Fang X, Zhou Y, Chen F. Clinical manifestations and prenatal diagnosis of Ullrich congenital muscular dystrophy: A case report. World J Clin Cases 2022; 10(1): 338-344 |
| URL |
https://www.wjgnet.com/2307-8960/full/v10/i1/338.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v10.i1.338 |
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