Glycogen Storage Disease
Data on glycogen storage disease reported by researchers at University of Copenhagen, Department of Neurology
Published in Blood Weekly, June 11th, 2009
A report, 'Splice mutations preserve myophosphorylase activity that ameliorates the phenotype in McArdle disease,' is newly published data in Brain. "Over 100 mutations in the myophosphorylase gene, which cause McArdle disease, are known. All these mutations have resulted in a complete block of muscle glycogenolysis, and accordingly, no genotype-phenotype correlation has been identified in this condition," scientists writing in the journal Brain report.
"We evaluated physiologic and genetic features of two patients with a variant form of McArdle disease, associated with unusually high exercise capacity. Physiologic findings were compared to those in 47...
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Source: Blood Weekly (2009-06-11)
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