Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.

@article{Martn2001MolecularHO,
  title={Molecular heterogeneity of myophosphorylase deficiency (McArdle's disease): a genotype-phenotype correlation study.},
  author={Miguel Angel Mart{\'i}n and Juan C. Rubio and Jenny L. Buchbinder and Roberto Fernandez-Hojas and Pilar S{\'a}nchez del Hoyo and Susana Teijeira and Josep Gamez and Carmen Navarro and Jos{\'e} Mar{\'i}a Urman Fern{\'a}ndez and A. Mara{\~n}{\'o}n Cabello and Yolanda Le{\'o}n Campos and Carlos Cervera and Jes{\'u}s Manuel Culebras and A. Lacambra Andreu and Robert Fletterick and J. J. Ag{\"u}era Arenas},
  journal={Annals of neurology},
  year={2001},
  volume={50 5},
  pages={
          574-81
        }
}
We report on 54 Spanish patients with McArdle's disease from 40 unrelated families. Molecular analysis revealed that the most common R49X mutation was present in 70% of patients and 55% of alleles. The G204S mutation was less frequent and found in 14.8% of patients and 9% of mutant alleles. The W797R mutation was observed in 16.5% of patients, accounting for 13.7% of mutant alleles. Moreover, 78% of mutant alleles among Spanish patients can be identified by using polymerase chain reaction… CONTINUE READING
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