Glycogen Storage Disease
Study data from Vall d'Hebron University provide new insights into glycogen storage disease
Published in Hospital Business Week, May 18th, 2008
"Mutations resulting in PTC could trigger the degradation of mRNA through a mechanism known as nonsense mediated decay (NMD). To investigate if NMD affects the levels of transcripts containing PYGM mutations, 28 Spanish patients with McArdle disease, harboring 17 different mutations with PTCs in 77% of their alleles, were studied....
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