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

Title
Collagen VI-related myopathy: Expanding the clinical and genetic spectrum
Authors
Kim S.Y.Kim W.J.Kim H.Choi S.A.Lee J.S.Cho A.Jang S.S.Lim B.C.Kim K.J.Kim J.-I.Hahn S.H.Chae J.-H.
Ewha Authors
조안나
SCOPUS Author ID
조안나scopus
Issue Date
2018
Journal Title
Muscle and Nerve
ISSN
0148-639XJCR Link
Citation
vol. 58, no. 3, pp. 381 - 388
Keywords
Bethlem myopathyCOL6A1COL6A2COL6A3collagen VI-related myopathyUllrich congenital muscular dystrophy
Publisher
John Wiley and Sons Inc.
Indexed
SCI; SCIE; SCOPUS scopus
Abstract
Introduction: We aimed to analyze the clinical and genetic characteristics of collagen VI-related myopathy. Methods: We analyzed the clinical course and mutation spectrum in patients with collagen VI gene mutations among our congenital muscular dystrophy cohort. Results: Among 24 patients with mutations in collagen VI coding genes, 13 (54.2%) were categorized as Ullrich type, and 11 (45.8%) as non-Ullrich type. Congenital orthopedic problems were similarly observed in both types, yet multiple joint contractures were found only in the Ullrich type. Clinical courses and pathology findings varied between patients. Mutations in COL6A1, COL6A2, and COL6A3 were found in 15 (65%), 3 (13%), and 5 (22%) patients, respectively, without genotype–phenotype association. Five novel variants were detected. Discussion: We verified clinical heterogeneity of collagen VI-related myopathy, which emphasizes the importance of genetic testing. Genotype–phenotype association or early predictors for progression were not identified. Multiple joint contractures predict rapid deterioration. Muscle Nerve 58: 381–388, 2018. © 2018 Wiley Periodicals, Inc.
DOI
10.1002/mus.26093
Appears in Collections:
의과대학 > 의학과 > Journal papers
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