View : 97 Download: 0

Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea

Title
Clinical, pathologic, and genetic features of collagen VI-related myopathy in Korea
Authors
Lee J.H.Shin H.Y.Park H.J.Kim S.H.Kim S.M.Choi Y.-C.
Ewha Authors
박형준
SCOPUS Author ID
박형준scopusscopus
Issue Date
2017
Journal Title
Journal of Clinical Neurology (Korea)
ISSN
1738-6586JCR Link
Citation
vol. 13, no. 4, pp. 331 - 339
Keywords
CollagenGenetic testingMuscular diseases
Publisher
Korean Neurological Association
Indexed
SCIE; SCOPUS; KCI WOS scopus
Abstract
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. © 2017 Korean Neurological Association.
DOI
10.3988/jcn.2017.13.4.331
Appears in Collections:
의료원 > 의료원 > Journal papers
Files in This Item:
There are no files associated with this item.
Export
RIS (EndNote)
XLS (Excel)
XML


qrcode

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

BROWSE