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학술연구/단체지원/교육 등 연구자 활동을 지속하도록 DBpia가 지원하고 있어요.
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논문 기본 정보
- 자료유형
- 학술저널
- 저자정보
- 발행연도
- 2017.1
- 수록면
- 331 - 339 (9page)
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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.
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참고문헌 (23)
참고문헌 신청
Baker NL / 2007 / Molecular consequences of dominant Bethlem myopathy collagen VI mutations / Ann Neurol 62 : 390 ~ 405
Bethlem J / 1976 / Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees / Brain 99 : 91 ~ 100
Bonnemann CG / 2011 / The collagen VI-related myopathies: muscle meets its matrix / Nat Rev Neurol 7 : 379 ~ 390
Brinas L / 2010 / Early onset collagen VI myopathies: genetic and clinical correlations / Ann Neurol 68 : 511 ~ 520
Chae JH / 2015 / Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders / J Med Genet 52 : 208 ~ 216
Bethlem J / 1976 / Benign myopathy, with autosomal dominant inheritance. A report on three pedigrees / Brain 99 : 91 ~ 100
Bonnemann CG / 2011 / The collagen VI-related myopathies: muscle meets its matrix / Nat Rev Neurol 7 : 379 ~ 390
Brinas L / 2010 / Early onset collagen VI myopathies: genetic and clinical correlations / Ann Neurol 68 : 511 ~ 520
Chae JH / 2015 / Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders / J Med Genet 52 : 208 ~ 216
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