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8/24/2021 2:07:00 AM | Browse: 202 | Download: 251
Publication Name World Journal of Clinical Cases
Manuscript ID 62170
Country China
Received
2020-12-31 02:42
Peer-Review Started
2020-12-31 02:44
To Make the First Decision
Return for Revision
2021-06-15 05:51
Revised
2021-06-25 07:26
Second Decision
2021-07-06 05:46
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-07-06 06:09
Articles in Press
2021-07-06 06:09
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-07-19 01:10
Typeset the Manuscript
2021-08-13 02:24
Publish the Manuscript Online
2021-08-24 02:07
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.
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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 Neurosciences
Manuscript Type Case Report
Article Title Late-onset Leigh syndrome without delayed development in China: A case report
Manuscript Source Unsolicited Manuscript
All Author List Jian-Min Liang, Cui-Juan Xin, Guang-Liang Wang and Xue-Mei Wu
ORCID
Author(s) ORCID Number
Jian-Min Liang http://orcid.org/0000-0003-4077-7677
Cui-Juan Xin http://orcid.org/0000-0002-3142-1954
Guang-Liang Wang http://orcid.org/0000-0002-6131-4826
Xue-Mei Wu http://orcid.org/0000-0003-4308-0912
Funding Agency and Grant Number
Funding Agency Grant Number
National Natural Science Foundation of China 81801284
National Natural Science Foundation of China 81771396
Corresponding Author Xue-Mei Wu, MD, Doctor, Department of Pediatric Neurology, 1st hospital of Jilin University, No. 1 Xinmin Street, Changchun 130021, Jilin Province, China. xmwu@jlu.edu.cn
Key Words Leigh syndrome; 9176 mutation; Late-onset; Case report
Core Tip Leigh syndrome (LS) often manifests as early-onset with delayed phenotypic development. However, late-onset LS with normal development and white matter lesions in the brain is rarely reported. Here, we present a late-onset LS case of a previously healthy12-year-old boy that suddenly and unexpectedly died within 2 mo after the onset of symptom that included myasthenia oculi and subsequent energy failure. Gene analysis revealed that the boy had a T-to-C transition at nucleotide 9176 of the mitochondrial ATPase 6 gene. The current case is reported for the first time in China and highlights the variability of phenotypic expression of LS.
Publish Date 2021-08-24 02:07
Citation Liang JM, Xin CJ, Wang GL, Wu XM. Late-onset Leigh syndrome without delayed development in China: A case report. World J Clin Cases 2021; 9(24): 7133-7138
URL https://www.wjgnet.com/2307-8960/full/v9/i24/7133.htm
DOI https://dx.doi.org/10.12998/wjcc.v9.i24.7133
Full Article (PDF) WJCC-9-7133.pdf
Full Article (Word) WJCC-9-7133.docx
Manuscript File 62170_Review-Filipodia-CL.docx
Answering Reviewers 62170-Answering reviewers.pdf
Audio Core Tip 62170-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 62170-Conflict-of-interest statement.pdf
Copyright License Agreement 62170-Copyright license agreement.PDF
Approved Grant Application Form(s) or Funding Agency Copy of any Approval Document(s) 62170-Grant application form(s).pdf
Signed Informed Consent Form(s) or Document(s) 62170-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 62170-Language certificate.pdf
Peer-review Report 62170-Peer-review(s).pdf
Scientific Misconduct Check 62170-Bing-Liu M-1.png
Scientific Misconduct Check 62170-CrossCheck.png
Scientific Misconduct Check 62170-Bing-Gong ZM-2.png
Scientific Misconduct Check 62170-Scientific misconduct check.pdf
Scientific Editor Work List 62170-Scientific editor work list.pdf