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Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience
- Title
- Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience
- Authors
- Seong M.-W.; Cho A.; Park H.W.; Seo S.H.; Lim B.C.; Seol D.; Cho S.I.; Park S.S.; Chae J.H.
- Ewha Authors
- 조안나
- SCOPUS Author ID
- 조안나
- Issue Date
- 2016
- Journal Title
- Clinical Genetics
- ISSN
- 0009-9163
- Citation
- Clinical Genetics vol. 89, no. 4, pp. 484 - 488
- Keywords
- Gene panel; Molecular diagnosis; Muscular dystrophy; Next-generation sequencing
- Publisher
- Blackwell Publishing Ltd
- Indexed
- SCI; SCIE; SCOPUS
- Document Type
- Article
- Abstract
- Muscular dystrophy (MD) is a genetically and clinically heterogeneous group of disorders. Here, we performed targeted sequencing of 18 limb-girdle MD (LGMD)-related genes in 35 patients who were highly suspected of having MD. We identified one or more pathogenic variants in 23 of 35 patients (65.7%), and a genetic diagnosis was performed in 20 patients (57.1%). LGMD2B was the most common LGMD type, followed by LGMD1B, LGMD2A, and LGMD2G. Among the three major LGMD types in this group, LGMD1B was correlated with the lowest creatine kinase (CK) levels and the earliest onset, whereas LGMD2B was correlated with the highest CK levels and the latest onset. Thus, next-generation sequencing-based gene panels can be a helpful tool for the diagnosis of MDs, particularly in young children and those displaying atypical symptoms. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.
- DOI
- 10.1111/cge.12621
- Appears in Collections:
- 의과대학 > 의학과 > Journal papers
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