title: A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay.
abstract: We have identified a compound heterozygous mutation of PYGM in a Korean patient with McArdle disease, which is composed of a novel single codon deletion (p.779delE) and a common nonsense mutation (p.R50X). Our study also showed an evidence of nonsense-mediated mRNA decay (NMD) caused by p.R50X mutation, supporting the importance of RNA processing defects in the molecular pathology of McArdle disease.
authors.affiliation: Department of Neurology, Chungnam University Hospital, Daejeon, Republic of Korea.
authors.forename: Eun Hee
authors.initials: EH
authors.lastname: Sohn
authors.forename: Hyang-Sook
authors.initials: HS
authors.lastname: Kim
authors.forename: Ae Young
authors.initials: AY
authors.lastname: Lee
authors.forename: Tokiko
authors.initials: T
authors.lastname: Fukuda
authors.forename: Hideo
authors.initials: H
authors.lastname: Sugie
authors.forename: Dae-Seong
authors.initials: DS
authors.lastname: Kim
mesh_terms: D000293:Adolescent; D018389:Codon, Nonsense; D024982:Glycogen Phosphorylase, Muscle Form / Q000235:genetics*; D006012:Glycogen Storage Disease Type V / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007723:Korea; D008297:Male; D020871:RNA Stability / Q000235:genetics / Q000502:physiology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D017384:Sequence Deletion
chemical_list: D018389:Codon, Nonsense; D024982:Glycogen Phosphorylase, Muscle Form