Article
Cell models for McArdle disease and aminoglycoside-induced read-through of a premature termination codon.
Neuromuscular disorders : NMD - 1 Jan 2013
Birch Kathryn E, Quinlivan Ros M, Morris Glenn E
Abstract excerpt
McArdle disease results from mutations in the gene encoding muscle glycogen phosphorylase (PYGM) protein and the two most common mutations are a premature termination codon (R50X) and a missense mutation (G205S). Myoblasts from patients cannot be used to create a cell model of McArdle disease because even normal myoblasts produce little or no PYGM protein in cell culture. We therefore created cell models by...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.