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

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Infantile autophagic vacuolar myopathy is distinct from Danon disease.

Lysosomal glycogen storage disease with normal acid maltase (Danon) is caused by primary lysosome- associated membrane protein-2 (LAMP-2) deficiency. Typically, the disease begins after the first decade; however, two infantile patients had similar histologic features. The infantile disorder is distinct from Danon disease, because, in both infants, LAMP-2 protein is present in skeletal muscle. Deposition of C5b-9 and multilayered basal lamina in one patient suggest that the infantile disease is pathogenically similar to X-linked myopathy with excessive autophagy.[1]

References

  1. Infantile autophagic vacuolar myopathy is distinct from Danon disease. Yamamoto, A., Morisawa, Y., Verloes, A., Murakami, N., Hirano, M., Nonaka, I., Nishino, I. Neurology (2001) [Pubmed]
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