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4/2/2021 12:29:13 PM | Browse: 346 | Download: 669
Publication Name World Journal of Clinical Cases
Manuscript ID 61050
Country China
Received
2020-12-25 15:17
Peer-Review Started
2020-12-25 15:18
To Make the First Decision
Return for Revision
2021-01-10 19:20
Revised
2021-01-23 07:48
Second Decision
2021-02-08 03:37
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief
2021-02-08 19:04
Articles in Press
2021-02-08 19:04
Publication Fee Transferred
Edit the Manuscript by Language Editor
2021-02-20 02:06
Typeset the Manuscript
2021-03-11 01:22
Publish the Manuscript Online
2021-04-02 12:29
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 Pediatrics
Manuscript Type Case Report
Article Title Nemaline myopathy with dilated cardiomyopathy and severe heart failure: A case report
Manuscript Source Unsolicited Manuscript
All Author List Qian Wang and Fan Hu
ORCID
Author(s) ORCID Number
Qian Wang http://orcid.org/0000-0002-0382-9872
Fan Hu http://orcid.org/0000-0002-2583-4058
Funding Agency and Grant Number
Corresponding Author Fan Hu, MD, Associate Chief Physician, Department of Pediatric Cardiology, West China Second University Hospital, Sichuan University, No. 20 3rd section, South Renmin Road, Chengdu 610041, Sichuan, China. heracleshu@sina.com
Key Words Nemaline myopathy; Myopalladin; Dilated cardiomyopathy; Heart failure; Whole-exome sequencing; Case report
Core Tip Nemaline myopathy (NM) is a rare kind of congenital myopathy, with an incidence of 1: 50000. The pathological characteristic is accumulated “rod” shaped structures in the muscle biopsies observed by light or electron microscope. The patients of NM often have hypomyotonia and different degrees of muscle weakness. Skeletal muscles are always involved in this disease, while myocardial involvement is uncommon. However, it has been recognized that NM with mutation in myopalladin (MYPN) gene also result in dilated cardiomyopathy or hypertrophic cardiomyopathy. Here, we report a case of 3-year-old boy with NM who was admitted with dilated cardiomyopathy and heart failure followed by genetic confirmation of NM with MYPN mutation.
Publish Date 2021-04-02 12:29
Citation Wang Q, Hu F. Nemaline myopathy with dilated cardiomyopathy and severe heart failure: A case report. World J Clin Cases 2021; 9(11): 2569-2575
URL https://www.wjgnet.com/2307-8960/full/v9/i11/2569.htm
DOI https://dx.doi.org/10.12998/wjcc.v9.i11.2569
Full Article (PDF) WJCC-9-2569.pdf
Full Article (Word) WJCC-9-2569.docx
CARE Checklist–2016 61050-CARE-Checklist–2016-revision.pdf
Manuscript File 61050_Auto_Edited_LM_WangTQ.docx
Answering Reviewers 61050-Answering reviewers.pdf
Audio Core Tip 61050-Audio core tip.m4a
Conflict-of-Interest Disclosure Form 61050-Conflict-of-interest statement.pdf
Copyright License Agreement 61050-Copyright license agreement.pdf
Signed Informed Consent Form(s) or Document(s) 61050-Informed consent statement.pdf
Non-Native Speakers of English Editing Certificate 61050-Language certificate.pdf
Peer-review Report 61050-Peer-review(s).pdf
Scientific Misconduct Check 61050-Scientific misconduct check.pdf
Scientific Editor Work List 61050-Scientific editor work list.pdf