Collagen VI-related myopathy: Expanding the clinical and genetic spectrum-Reference-Cited by-同舟云学术

Collagen VI-related myopathy: Expanding the clinical and genetic spectrum

Published:2018-09 Issue:3 Volume:58 Page:381-388
ISSN:0148-639X
Container-title:Muscle & Nerve
language:en
Short-container-title:Muscle Nerve

Author:

Kim Soo Yeon¹,Kim Woo Joong¹,Kim Hyuna¹,Choi Sun Ah¹,Lee Jin Sook²,Cho Anna³,Jang Se Song⁴,Lim Byung Chan¹,Kim Ki Joong¹,Kim Jong-Il⁴⁵,Hahn Si Houn⁶⁷⁸,Chae Jong-Hee¹

Affiliation:

1. Department of Pediatrics, Pediatric Clinical Neuroscience Center; Seoul National University Children's Hospital, Seoul National University College of Medicine; 101 Daehakro Jongno-gu, Seoul Korea, 110-744

2. Department of Pediatrics, Department of Genome Medicine and Science; Gachon University Gil Medical Center; Incheon Korea

3. Department of Pediatrics; Ewha Womans University College of Medicine; Seoul Korea

4. Department of biomedical Science; Seoul National University Graduate School; Seoul Korea

5. Department of Biochemistry and Molecular Biology; Seoul National University College of Medicine; Seoul Korea

6. Department of Genome Medicine and Science; Gachon University Gil Medical Center; Incheon Korea

7. Department of Pediatrics; University of Washington School of Medicine; Seattle Washington USA

8. Seattle Children's Hospital; Seattle Washington USA

Funder

Korea Health Industry Development Institute

Ministry of Health and Welfare

Republic of Korea

National Research Foundation of Korea

Korean government

Publisher

Wiley

Subject

Physiology (medical),Cellular and Molecular Neuroscience,Neurology (clinical),Physiology

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/mus.26093/fullpdf

Reference37 articles.

1. Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects;Reed;Arq Neuropsiquiatr,2009

2. Congenital myopathies: natural history of a large pediatric cohort;Colombo;Neurology,2015

3. A case of Ullrich's disease (Kongenitale, Atonisch-Sklerotische Muskeldystrophie);Nihei;Brain Dev,1979

4. Bethlem myopathy: early-onset benign autosomal dominant myopathy with contractures. Description of two new families;Merlini;Neuromuscul Disord,1994

5. Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees;Bethlem;Brain,1976

Cited by 18 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. Collagen diseases;Biochemistry of Collagens, Laminins and Elastin;2024

2. MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders;NeuroMolecular Medicine;2023-10-19

3. Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study;Neuromuscular Disorders;2023-05

4. Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes;International Journal of Molecular Sciences;2023-03-14

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