title: A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.
abstract: Muscular dystrophies and congenital myopathies are a large group of heterogeneous inherited muscle disorders. The spectrum of muscular dystrophies and congenital myopathies extends to more than 50 diseases today, even excluding the common forms Duchenne Muscular Dystrophy, Myotonic Dystrophy and Facioscapulohumeral Dystrophy. Unfortunately, even by critical clinical evaluation and muscle pathology, diagnosis is still difficult. To potentially remediate this difficulty, we applied a microarray-based targeted next-generation sequencing (NGS) technology to diagnose these patients. There were 55 consecutive unrelated patients who underwent the test, 36 of which (65%) were found to have a causative mutation. Our result shows the accuracy and efficiency of next-generation sequencing in clinical circumstances and reflects the features and relative distribution of inherited myopathies in the Chinese population.
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Yi
authors.initials: Y
authors.lastname: Dai
authors.affiliation: BGI-Wuhan, Wuhan, China.
authors.forename: Xiaoming
authors.initials: X
authors.lastname: Wei
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Yanhuan
authors.initials: Y
authors.lastname: Zhao
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Haitao
authors.initials: H
authors.lastname: Ren
authors.affiliation: BGI-Shenzhen, Shenzhen, China.
authors.forename: Zhangzhang
authors.initials: Z
authors.lastname: Lan
authors.affiliation: BGI-Wuhan, Wuhan, China.
authors.forename: Yun
authors.initials: Y
authors.lastname: Yang
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China.
authors.forename: Lin
authors.initials: L
authors.lastname: Chen
authors.affiliation: Department of Neurology, Peking Union Medical College Hospital, Peking Union Medical College and Chinese Academy of Medical Sciences, Beijing, China; Neuroscience Center, Chinese Academy of Medical Sciences, Beijing, China. Electronic address: cuiliying2013@yahoo.com.
authors.forename: Liying
authors.initials: L
authors.lastname: Cui
mesh_terms: D000293:Adolescent; D000328:Adult; D044466:Asian People; D002648:Child; D002675:Child, Preschool; D002681:China / Q000453:epidemiology; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D009136:Muscular Dystrophies / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D009154:Mutation; D009224:Myotonia Congenita / Q000175:diagnosis* / Q000453:epidemiology / Q000235:genetics*; D020411:Oligonucleotide Array Sequence Analysis; D055815:Young Adult
keywords: Chinese patients' features; Congenital myopathy; Muscular dystrophy; Prospective diagnostic study; Targeted next-generation sequencing