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

 Jung Hwan Lee  ;  Ha Young Shin  ;  Hyung Jun Park  ;  Se Hoon Kim  ;  Seung Min Kim  ;  Young-Chul Choi 
 Journal of Clinical Neurology, Vol.13(4) : 331-339, 2017 
Journal Title
 Journal of Clinical Neurology 
Issue Date
collagen ; genetic testing ; muscular diseases
BACKGROUND AND PURPOSE: Mutations in collagen VI-related genes (COL6A1, COL6A2, and COL6A3) cause Bethlem myopathy (BM) and Ullrich congenital muscular dystrophy (UCMD). These were previously believed to be separate disease entities, but they are now both classified as collagen VI-related myopathies, which cover a broad clinical spectrum. We aimed to analyze the clinical, pathologic, and genetic characteristics of patients with collagen VI-related myopathy in Korea. METHODS: We reviewed the clinical, pathologic, and genetic features in 22 patients with collagen VI-related myopathy from 13 families, as confirmed by genetic analysis of collagen VI-related genes. RESULTS: The mean ages of the 22 patients at first symptom presentation and diagnosis were 4.5 and 24.9 years, respectively. Four patients in 4 families showed the phenotype of intermediate collagen VI-related myopathies (IM), 16 patients in 7 families had the BM phenotype, and 2 patients in 2 families presented with the typical UCMD phenotype. Based on genetic analysis, five patients (five families) comprising four with IM and one with typical UCMD had missense mutations in the triple-helical domain of COL6A1, and ten patients (four families) with BM showed exon-14-skipping mutations. Additionally, we found two novel mutations: c.956A>G (p.K319R) in COL6A1 and c.6221G>T (p.G2074V) in COL6A3. CONCLUSIONS: Missense mutations in the triple-helical domain of COL6A1 are the most common mutations related to collagen VI-related myopathy in Korea. Patients with these mutations have a tendency toward an earlier disease onset and more severe progression compared to patients with other mutations.
Appears in Collections:
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Pathology (병리학교실)
1. Journal Papers (연구논문) > 1. College of Medicine (의과대학) > Dept. of Neurology (신경과학교실)
Yonsei Authors
김세훈(Kim, Se Hoon) ORCID logo https://orcid.org/0000-0001-7516-7372
김승민(Kim, Seung Min) ORCID logo https://orcid.org/0000-0002-4384-9640
신하영(Shin, Ha Young) ORCID logo https://orcid.org/0000-0002-4408-8265
이정환(Lee, Jung Hwan)
최영철(Choi, Young Chul) ORCID logo https://orcid.org/0000-0001-5525-6861
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