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Articles Published Processes
10/21/2021 8:44:05 AM | Browse: 511 | Download: 1475
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Received |
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2021-06-07 13:43 |
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Peer-Review Started |
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2021-06-07 13:46 |
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First Decision by Editorial Office Director |
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2021-06-25 09:09 |
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Return for Revision |
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2021-06-25 09:09 |
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Revised |
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2021-07-09 04:01 |
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Publication Fee Transferred |
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Second Decision by Editor |
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2021-08-06 03:10 |
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Second Decision by Editor-in-Chief |
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Final Decision by Editorial Office Director |
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2021-08-06 04:39 |
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Articles in Press |
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2021-08-06 04:39 |
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Edit the Manuscript by Language Editor |
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2021-08-23 03:04 |
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Typeset the Manuscript |
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2021-10-18 02:17 |
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Publish the Manuscript Online |
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2021-10-21 08:44 |
| 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) 2021. 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 |
Genetics & Heredity |
| Manuscript Type |
Case Report |
| Article Title |
Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report
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| Manuscript Source |
Unsolicited Manuscript |
| All Author List |
Feng-Juan Ding, Gui-Zhen Lyu, Victor Wei Zhang and Hua Jin |
| ORCID |
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| Funding Agency and Grant Number |
| Funding Agency |
Grant Number |
| Jinan Science and Technology Project |
201805014 |
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| Corresponding Author |
Hua Jin, MD, Associate Chief Pharmacist, Department of Prenatal Diagnosis Center, Jinan Maternal and Child Health Hospital, No.2 Jianguo Xiaojingsan Road, Shizhong District, Jinan 250001, Shandong Province, China. tonyshirly@163.com |
| Key Words |
DYNC1H1; Mental retardation; Muscle weakness; Medical exome sequencing; Case report |
| Core Tip |
The dynein cytoplasmic1 heavy chain 1 gene-related diseases include Charcot-Marie-Tooth disease type 20, mental retardation 13, and spinal muscular atrophy with lower extremity predominant 1, all of which are inherited in an autosomal dominant manner. A novel mutation, c.5885G>A (p.R1962H) in DYNC1H1 gene, led to overlapping phenotypes (seizure, general growth retardation and muscle weakness) of those three diseases and expanded the DYNC1H1 gene mutation spectrum. And there is no effective treatment. |
| Publish Date |
2021-10-21 08:44 |
| Citation |
Ding FJ, Lyu GZ, Zhang VW, Jin H. Missense mutation in DYNC1H1 gene caused psychomotor developmental delay and muscle weakness: A case report. World J Clin Cases 2021; 9(30): 9302-9309 |
| URL |
https://www.wjgnet.com/2307-8960/full/v9/i30/9302.htm |
| DOI |
https://dx.doi.org/10.12998/wjcc.v9.i30.9302 |
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