A novel PYGM mutation in a Korean patient with McArdle disease: the role of nonsense-mediated mRNA decay.
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.
Sohn
Eun Hee
EH
Department of Neurology, Chungnam University Hospital, Daejeon, Republic of Korea.
Kim
Hyang-Sook
HS
Lee
Ae Young
AY
Fukuda
Tokiko
T
Sugie
Hideo
H
Kim
Dae-Seong
DS
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
D018389:Codon, Nonsense; D024982:Glycogen Phosphorylase, Muscle Form