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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro.

McArdle's disease is due to a genetic deficiency of glycogen phosphorylase and results in a lack of glucose mobilization from glycogen during anaerobic exercise. A genetic defect in Merino sheep produces a similar picture. We constructed a first-generation adenoviral recombinant containing the full-length human phosphorylase cDNA under the control of the Rous sarcoma virus promoter. Primary myoblast cultures from phosphorylase-deficient human and sheep muscle were efficiently transduced with this vector, resulting in restoration of the phosphorylase activity. A similar correction of the genetic defect in muscles of McArdle's patients in vivo appears feasible, preferably with the use of an adeno-associated viral vector.[1]


  1. Myophosphorylase gene transfer in McArdle's disease myoblasts in vitro. Pari, G., Crerar, M.M., Nalbantoglu, J., Shoubridge, E., Jani, A., Tsujino, S., Shanske, S., DiMauro, S., Howell, J.M., Karpati, G. Neurology (1999) [Pubmed]
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