Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3080893 | Neuromuscular Disorders | 2008 | 4 Pages |
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.
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Authors
Eun Hee Sohn, Hyang-Sook Kim, Ae Young Lee, Tokiko Fukuda, Hideo Sugie, Dae-Seong Kim,