title: [Diagnosis for skeletal muscle disorders using next-generation sequencing.]
abstract: Next-generation sequencing technologies have been widely used to obtain massive sequence data as a time and cost effective method. They have also been used for the diagnosis of the genetic disorders including skeletal muscle disorders, such as muscular dystrophies and congenital myopathies. This short review introduces some of their applications in the clinical settings.
authors.affiliation: Biomedical Informatics Laboratory, Department of Molecular Life Science, Tokai University School of Medicine, Japan.
authors.forename: Satomi
authors.initials: S
authors.lastname: Mitsuhashi
mesh_terms: D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics; D009154:Mutation; D010641:Phenotype; D017422:Sequence Analysis, DNA