Publication Name	World Journal of Clinical Cases
Manuscript ID	64471
Country	China

Category	Orthopedics
Manuscript Type	Case Report
Article Title	Collagen VI-related myopathy with scoliosis alone: A case report and review of literature
Manuscript Source	Unsolicited Manuscript
All Author List	Jun-Yu Li, Shuo-Zi Liu, Dan-Feng Zheng, Ying-Shuang Zhang and Miao Yu
Funding Agency and Grant Number
Corresponding Author	Miao Yu, PhD, Doctor, Department of Orthopaedics, Peking University Third Hospital, No. 49 Huayuan North Road, Haidian District, Beijing 100083, China. miltonyu@126.com
Key Words	Paravertebral pathology; Scoliosis; Collagen VI-related myopathy; Genetic testing; Neuromuscular diseases; Case report
Core Tip	Here we report a patient diagnosed as congenital scoliosis initially with a deformity of the vertebral body. However, the gene analysis indicated mutations in COL6A1 (c.1612-10G>A) and COL6A2 (c.115+10G>T, c.2749G>A). Immunohistochemistry of collagen VI displayed shallow and discontinuous staining. This newly found subtype of collagen VI-related myopathy has no weakness, hypotonia, laxity of distal joints, contractures of proximal joints and is characterized by severe scoliosis and congenital vertebral deformity, implying the underlying etiology of congenital scoliosis may be a special type of collagen VI-related myopathy.
Citation	Li JY, Liu SZ, Zheng DF, Zhang YS, Yu M. Collagen VI-related myopathy with scoliosis alone: A case report and review of literature. World J Clin Cases 2021; 9(19): 5302-5312

Received	2021-02-25 15:32
Peer-Review Started	2021-02-25 15:39
To Make the First Decision
Return for Revision	2021-04-13 04:16
Revised	2021-04-26 15:57
Second Decision	2021-04-29 06:06
Accepted by Journal Editor-in-Chief
Accepted by Company Editor-in-Chief	2021-04-29 11:23
Articles in Press	2021-04-29 11:23
Publication Fee Transferred
Edit the Manuscript by Language Editor	2021-05-12 04:57
Typeset the Manuscript	2021-06-16 00:04

ISSN	2307-8960 (online)
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