Screening for late-onset Pompe disease in Finland.

@article{Palmio2014ScreeningFL,
  title={Screening for late-onset Pompe disease in Finland.},
  author={Johanna Palmio and Mari P Auranen and Sari M K Kiuru-Enari and Mervi I L{\"o}fberg and Olaf A F Bodamer and Bjarne A. Udd},
  journal={Neuromuscular disorders : NMD},
  year={2014},
  volume={24 11},
  pages={982-5}
}
Pompe disease (glycogen storage disease type II) is caused by autosomal recessive mutations in GAA gene. The estimated frequency of late-onset Pompe disease is around 1:60,000. However, only two infantile and one late-onset Pompe patients have been reported in Finland with a population of 5 million. We screened for late-onset Pompe disease in a cohort of undetermined myopathy patients with proximal muscle weakness and/or elevated serum creatine kinase values. Acid α-glucosidase (GAA) activity… CONTINUE READING

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