Publication Name	World Journal of Clinical Cases
Manuscript ID	62212
Country	China

Received	2021-02-09 08:05
Peer-Review Started	2021-02-09 08:08
First Decision by Editorial Office Director	2021-02-28 17:59
Return for Revision	2021-02-28 17:59
Revised	2021-03-08 15:55
Publication Fee Transferred
Second Decision by Editor	2021-04-12 12:33
Second Decision by Editor-in-Chief
Final Decision by Editorial Office Director	2021-04-12 16:52
Articles in Press	2021-04-12 16:52
Edit the Manuscript by Language Editor	2021-04-26 09:41
Typeset the Manuscript	2021-05-31 11:50
Publish the Manuscript Online	2021-06-24 07:26

ISSN	2307-8960 (online)
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Category	Clinical Neurology
Manuscript Type	Case Report
Article Title	Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report
Manuscript Source	Unsolicited Manuscript
All Author List	Mi Yang and Ru-Xin Xing
ORCID	Author(s) ORCID Number Mi Yang http://orcid.org/0000-0003-3920-8979 Ru-Xin Xing http://orcid.org/0000-0002-2559-4840
Funding Agency and Grant Number	Funding Agency Grant Number the Medical and Health Science and Technology Program of Zhejiang Province 2018273034
Corresponding Author	Mi Yang, MD, PhD, Doctor, Doctor, Department of Neurology, The Fourth Affiliated Hospital, Zhejiang University School of Medicine, No. 1 Shangcheng Avenue, Yiwu 322000, Zhejiang Province, China. mier999@zju.edu.cn
Key Words	Congenital muscular dystrophy; CRPPA; Mutation; Dystroglycanopathy; Case report
Core Tip	A homozygous deletion c. 1114-1116del (p.V372del) was identified in the exon 8 of the CRPPA gene in a chinese family, which is diagnosed as Congenital muscular dystrophy (CMD). Mutations in the CRPPA gene were recognized as causative factors of dystroglycanopathies, a subtype of CMD with defects in glycosylation. Findings in this study expanded the clinical and mutational spectrum of CMD patients with the CRPPA gene.
Publish Date	2021-06-24 07:26
Citation	Yang M, Xing RX. Homozygous deletion, c. 1114-1116del, in exon 8 of the CRPPA gene causes congenital muscular dystrophy in Chinese family: A case report. World J Clin Cases 2021; 9(19): 5226-5231
URL	https://www.wjgnet.com/2307-8960/full/v9/i19/5226.htm
DOI	https://dx.doi.org/10.12998/wjcc.v9.i19.5226

Full Article (PDF)	WJCC-9-5226.pdf
Full Article (Word)	WJCC-9-5226.docx
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Manuscript File	62212-Review-Filipodia.docx
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Scientific Editor Work List	62212-Scientific editor work list.pdf
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