title: Exome sequencing as a diagnostic tool to identify a causal mutation in genetically highly heterogeneous limb-girdle muscular dystrophy.
authors.forename: Tohru
authors.initials: T
authors.lastname: Matsuura
authors.forename: Tatsuaki
authors.initials: T
authors.lastname: Kurosaki
authors.forename: Yoshio
authors.initials: Y
authors.lastname: Omote
authors.forename: Narihiro
authors.initials: N
authors.lastname: Minami
authors.forename: Yukiko K
authors.initials: YK
authors.lastname: Hayashi
authors.forename: Ichizo
authors.initials: I
authors.lastname: Nishino
authors.forename: Koji
authors.initials: K
authors.lastname: Abe
mesh_terms: D000328:Adult; D001483:Base Sequence; D002154:Calpain / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods*; D059472:Exome / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D018740:Genetic Heterogeneity; D006720:Homozygote; D006801:Humans; D008969:Molecular Sequence Data; D009124:Muscle Proteins / Q000235:genetics; D049288:Muscular Dystrophies, Limb-Girdle / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D055815:Young Adult
chemical_list: D009124:Muscle Proteins; C105884:CAPN3 protein, human; D002154:Calpain