title: Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
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.
authors.affiliation: Departments of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: M-W
authors.initials: MW
authors.lastname: Seong
authors.affiliation: Department of Pediatrics, College of Medicine, Ewha Womans University, Seoul, Korea.
authors.forename: A
authors.initials: A
authors.lastname: Cho
authors.affiliation: Departments of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: H W
authors.initials: HW
authors.lastname: Park
authors.affiliation: Departments of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: S H
authors.initials: SH
authors.lastname: Seo
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: B C
authors.initials: BC
authors.lastname: Lim
authors.affiliation: Departments of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: D
authors.initials: D
authors.lastname: Seol
authors.affiliation: Departments of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: S I
authors.initials: SI
authors.lastname: Cho
authors.affiliation: Departments of Laboratory Medicine, Seoul National University Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: S S
authors.initials: SS
authors.lastname: Park
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, Seoul National University College of Medicine, Seoul, Korea.
authors.forename: J H
authors.initials: JH
authors.lastname: Chae
keywords: gene panel; molecular diagnosis; muscular dystrophy; next-generation sequencing