Glycogen storage disease type II: clinical overview.

@article{Rocco2007GlycogenSD,
  title={Glycogen storage disease type II: clinical overview.},
  author={M Di Rocco and Davide Buzzi and Marina Tar{\`o}},
  journal={Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology},
  year={2007},
  volume={26 1},
  pages={42-4}
}
Glycogen storage disease type II has a broad continuous clinical spectrum in terms of onset, involvement of organs and life expectancy. Infantile onset is the most severe form, presenting with prominent cardiomyopathy, hypotonia, hepatomegaly and death before 12 months of life. Late onset form has onset at any age, lack of severe (or absence of) cardiac involvement, progressive skeletal muscle dysfunction and less dismal short-term prognosis. In addition to muscle and heart involvement, other… CONTINUE READING
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