Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea-Reference-Cited by-同舟云学术

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Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea

Published:2017 Issue:4 Volume:13 Page:331
ISSN:1738-6586
Container-title:Journal of Clinical Neurology
language:en
Short-container-title:J Clin Neurol

Author:

Lee Jung Hwan¹²,Shin Ha Young¹,Park Hyung Jun³,Kim Se Hoon⁴,Kim Seung Min¹,Choi Young-Chul¹²

Affiliation:

1. Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.

2. Rehabilitation Institute of Neuromuscular Disease, Yonsei University College of Medicine, Seoul, Korea.

3. Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.

4. Department of Pathology, Yonsei University College of Medicine, Seoul, Korea.

Publisher

Korean Neurological Association

Subject

Neurology (clinical),Neurology

Link

https://synapse.koreamed.org/pdf/10.3988/jcn.2017.13.4.331

Cited by 15 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. A Diagnostic Challenge in an Adolescent with Collagen VI-Related Myopathy and Emotional Disorder—Case Report;Journal of Personalized Medicine;2023-11-04

2. New Clinical and Immunofluorescence Data of Collagen VI-Related Myopathy: A Single Center Cohort of 69 Patients;International Journal of Molecular Sciences;2023-08-05

3. Transcriptome profiling of skeletal muscles from Korean patients with Bethlem myopathy;Medicine;2023-03-03

4. Genetic Analysis of HIBM Myopathy-Specific GNE V727M Hotspot Mutation Identifies a Novel COL6A3 Allied Gene Signature That Is Also Deregulated in Multiple Neuromuscular Diseases and Myopathies;Genes;2023-02-24

5. A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report;Frontiers in Neurology;2023-01-27

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