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

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A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease.

We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM protein. The lack of enzyme activity in the proband's muscle is consistent with a crucial role of the aa 797 in the normal function of the PYGM protein. Our data further expand the genetic heterogeneity in patients with McArdle's disease.[1]

References

  1. A missense mutation W797R in the myophosphorylase gene in a Spanish patient with McArdle's disease. Rubio, J.C., Martín, M.A., Campos, Y., Auciello, R., Cabello, A., Arenas, J. Muscle Nerve (2000) [Pubmed]
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