Collagen VI‐related myopathy: Expanding the clinical and genetic spectrum |
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| Authors: | Soo Yeon Kim MD Woo Joong Kim MD Hyuna Kim MD Sun Ah Choi MD Jin Sook Lee MD Anna Cho MD Se Song Jang MS Byung Chan Lim MD Ki Joong Kim MD PhD Jong‐Il Kim PhD Si Houn Hahn MD PhD Jong‐Hee Chae MD PhD |
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| 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 |
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| 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 |
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| Keywords: | Bethlem myopathy COL6A1 COL6A2 COL6A3 collagen VI‐related myopathy Ullrich congenital muscular dystrophy |
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