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

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Juvenile polysaccharidosis with cardioskeletal myopathy.

Polysaccharidoses with ultrastructural features reminiscent of glycogenosis type IV, but without enzymatic correlation, have been observed in several adolescent and adult patients. Little is known of the clinical, pathologic, or biochemical nature of these disorders. We describe a patient with ultrastructural characteristics consistent with glycogenosis type IV, but with normal brancher enzyme activity in dermal fibroblasts and cardiac muscle. During life and at autopsy, electron microscopy revealed amylopectin-like polysaccharide deposits present in a wide variety of tissues. The polysaccharidosis of our patient and similar patients may be a variant of glycogenosis type IV with a yet to be defined enzymatic defect.[1]

References

  1. Juvenile polysaccharidosis with cardioskeletal myopathy. Greene, G.M., Weldon, D.C., Ferrans, V.J., Cheatham, J.P., McComb, R.D., Brown, B.I., Gumbiner, C.H., Vanderhoof, J.A., Itkin, P.G., McManus, B.M. Arch. Pathol. Lab. Med. (1987) [Pubmed]
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