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

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A homozygous missense mutation (A659D) 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 C-to-A mutation results in the replacement of a highly conserved alanine at amino acid position 659 with an aspartic acid in the C-terminal domain of the myophosphorylase gene protein, near binding sites for pyridoxal phosphate and glucose. Our data further expand the genetic heterogeneity in patients with McArdle's disease.[1]

References

  1. A homozygous missense mutation (A659D) in the myophosphorylase gene in a Spanish patient with McArdle's disease. Martín, M.A., Rubio, J.C., Campos, Y., Ricoy, J.R., Cabello, A., Arenas, J. Neuromuscul. Disord. (2000) [Pubmed]
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